Yayınlar & Eserler

Yayın Ağı
Makaleler 83
Tümü (83)
SCI-E, SSCI, AHCI (78)
SCI-E, SSCI, AHCI, ESCI (82)
ESCI (3)
Scopus (81)
TRDizin (8)

1. Endoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria

Gurses Cila H. E., DURSUN A., Vardar Acar N., Gecici N. N., AYHAN S., OSKAY HALAÇLI S., et al.
MOLECULAR BIOLOGY REPORTS , cilt.52, sa.1, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier

2. The Role of Cellular Stress, Antioxidant System Response, Mitochondrial Function, and Metabolic Alterations in the Pathophysiology of Propionic Acidemia: A Systematic Review.

Vardar Acar N., Özgül R. K.
Journal of cellular physiology , cilt.240, sa.8, 2025 (SCI-Expanded) identifier identifier

3. Phenotypic diversity in NAXE mutations

Solmaz I., Yalnızoğlu D., Dursun A., Çıkı K., Akar H. T., Özgül R. K., et al.
NEUROLOGICAL SCIENCES , cilt.46, sa.6, ss.2819-2828, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier

4. Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Demirtas Guner D., Bildik H. N., Demir H., Çağdaş Ayvaz D. N., Saltik Temizel I. N., Ozgul R. K., et al.
Children (Basel, Switzerland) , cilt.12, sa.5, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier

5. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort

AKAR H. T., KAHRAMAN A. B., YILDIZ Y., Baran B., ÇIKI K., COŞKUN T., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , sa.4, ss.399-405, 2025 (SCI-Expanded) identifier identifier

6. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1484-1485, 2024 (SCI-Expanded) identifier

7. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1484-1485, 2024 (SCI-Expanded) identifier

8. Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

Gurbuz B. B., GÜLBAKAN B., ÖZGÜL R. K., YALNIZOĞLU D., Yilmaz D. Y., GÖÇMEN R., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.194, sa.9, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

9. Turning Trash Into Treasure: A Simple Protocol for Human Mesenchymal Stromal Cell Isolation From Used Bone Marrow Collection Kits

ANASIZ Y., ÖZGÜL R. K., Uckan-Cetinkaya D.
Current Protocols , cilt.4, sa.4, 2024 (Scopus) identifier identifier identifier

10. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
Brain : a journal of neurology , cilt.147, sa.1, ss.311-324, 2024 (SCI-Expanded) identifier identifier identifier

11. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

ÇIKI K., YILDIZ Y., KAHRAMAN A. B., ÖZGÜL R. K., COŞKUN T., DURSUN A., et al.
Molecular Genetics and Metabolism , cilt.140, sa.3, 2023 (SCI-Expanded) identifier identifier identifier

12. A big picture of the mitochondria-mediated signals: From mitochondria to organism

Vardar Acar N., ÖZGÜL R. K.
Biochemical and Biophysical Research Communications , cilt.678, ss.45-61, 2023 (SCI-Expanded) identifier identifier identifier

13. THE BRIDGE BETWEEN CELL SURVIVAL AND CELL DEATH: REACTIVE OXYGEN SPECIES-MEDIATED CELLULAR STRESS

Acar N. V., ÖZGÜL R. K.
EXCLI Journal , cilt.22, ss.520-555, 2023 (SCI-Expanded) identifier identifier identifier

14. A Novel Double Homozygous BTD Gene Mutation in A Case of Profound Biotinidase Deficiency

DEVECİ K., AKAR H. T., YILDIZ Y., ÖZGÜL R. K.
Türkiye Çocuk Hastalıkları Dergisi , 2022 (Hakemli Dergi) Creative Commons License

15. Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia

Duzceker Y., Pehlivanturk-Kizilkan M., AKGÜL S., ÖZGÜL R. K., KANBUR N., DERMAN O.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.3, ss.349-354, 2022 (SCI-Expanded) identifier identifier identifier

16. An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy

Vardar Acar N., DURSUN A., Aygün D., Gürses Cila H. E., LAY İ., GÜLBAKAN B., et al.
Free Radical Biology and Medicine , cilt.179, ss.190-199, 2022 (SCI-Expanded) identifier identifier identifier

17. Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

DURSUN A., YALNIZOĞLU D., Yilmaz D. Y., Oguz K. K., GÜLBAKAN B., KOŞUKCU C., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded) identifier identifier identifier

18. Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening.

Çıkı K., Akar H. T., Özgül R. K., Gülbakan B., Yıldız Y.
Clinical chemistry , cilt.67, sa.10, ss.1428-1431, 2021 (SCI-Expanded) identifier identifier identifier

19. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings

Yıldız Y., Koşukcu C., Aygün D., Akçaboy M., Öztek Çelebi F. Z., Taşcı Yıldız Y., et al.
CLINICAL GENETICS , cilt.100, sa.3, ss.308-317, 2021 (SCI-Expanded) identifier identifier identifier

20. DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Çıkı K., Yıldız Y., Yücel Yılmaz D., Pektaş E., Tokatlı A., Özgül R. K., et al.
METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1405-1410, 2021 (SCI-Expanded) identifier identifier identifier

21. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., ÖZGÜL R. K., KOŞUKCU C., DURSUN A., SİVRİ H. S., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.4, ss.691-696, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier identifier

22. An unusual case of biotinidase deficiency with fingertip desquamation

Olgac A., Kilavuz S., Kilic M., ÖZGÜL R. K., KASAPKARA Ç. S.
TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY , cilt.15, sa.3, ss.74-76, 2021 (ESCI) identifier identifier

23. Characterization of human bone marrow niches with metabolome and transcriptome profiling

AYHAN S., NEMUTLU E., Cetinkaya D. U., KIR S., ÖZGÜL R. K.
JOURNAL OF CELL SCIENCE , cilt.134, sa.6, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

24. Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms

ÇAĞAN M., ÜNAL C., ÜREL DEMİR G., FADILOĞLU E., ÖZGÜL R. K., Belcsac M. S.
CASE REPORTS IN PERINATAL MEDICINE , cilt.10, sa.1, 2021 (ESCI) identifier

25. Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

Bezci Aygun F., KADAYIFÇILAR S., ÖZGÜL R. K., Eldem B.
OPHTHALMOLOGICA , cilt.243, sa.3, ss.187-194, 2020 (SCI-Expanded) identifier identifier identifier

26. Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

Cagdas D. N., Surucu N., TAN Ç., ÖZGÜL R. K., Akkaya-Ulum Y. Z., Aydinoglu A. T., et al.
MOLECULAR IMMUNOLOGY , cilt.121, ss.28-37, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

27. Presentation of 14 alkaptonuria patients from Turkey

AKBABA A. İ., ÖZGÜL R. K., DURSUN A.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.2, ss.289-294, 2020 (SCI-Expanded) identifier identifier identifier

28. Detection of allele frequencies of common c. 511C > T and c.625G > A variants in the ACADS gene in the Turkish population

Kilic M., Erguner B., KOŞUKCU C., ÖZGÜL R. K.
TURKISH JOURNAL OF PEDIATRICS , cilt.62, sa.1, ss.19-23, 2020 (SCI-Expanded) Creative Commons License identifier identifier identifier

29. Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Kilic M., Kasapkara C. S., Yilmaz D. Y., Ozguel R. K.
METABOLIC BRAIN DISEASE , cilt.34, sa.5, ss.1487-1491, 2019 (SCI-Expanded) identifier identifier identifier

30. Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

DURSUN A., YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Yucel-Yilmaz D.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS , 2019 (SCI-Expanded) identifier identifier identifier

31. Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Ozer B., Yucel-Yilmaz D., Gurbuz B., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.42, sa.2, ss.381-388, 2019 (SCI-Expanded) identifier identifier identifier

32. Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'

Kilic M., Kilic E., Yilmaz D. Y., ÖZGÜL R. K.
METABOLIC BRAIN DISEASE , cilt.33, sa.6, ss.1779-1780, 2018 (SCI-Expanded) identifier identifier identifier

33. Immunodeficiency in a Child with Alstrom Syndrome

Ozdemir T. R., Karaca N. E., Marshall J. D., KÜTÜKÇÜLER N., AKSU G., ÖZGÜL R. K., et al.
INDIAN JOURNAL OF PEDIATRICS , cilt.85, sa.10, ss.924-926, 2018 (SCI-Expanded) identifier identifier identifier

34. Five novel ALMS1 gene mutations in six patients with Alstrom syndrome

Kilinc S., Yucel-Yilmaz D., Ardagil A., Apaydin S., Valverde D., ÖZGÜL R. K., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.31, sa.6, ss.681-687, 2018 (SCI-Expanded) identifier identifier identifier

35. Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

Yucel-Yilmaz D., Yucesan E., YALNIZOĞLU D., Oguz K. K., Sagiroglu M. S., Ozbek U., et al.
BRAIN & DEVELOPMENT , cilt.40, sa.6, ss.458-464, 2018 (SCI-Expanded) identifier identifier identifier

36. The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne J. J., Tarailo-Graovac M., Ghani A., Champion M., Deshpande C., DURSUN A., et al.
MOLECULAR GENETICS AND METABOLISM , cilt.123, sa.1, ss.28-42, 2018 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

37. Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Kilic M., DURSUN A., COŞKUN T., TOKATLI A., ÖZGÜL R. K., YUCEL-YILMAZ D., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.173, sa.11, ss.2954-2967, 2017 (SCI-Expanded) identifier identifier identifier

38. A New Chapter for Mesenchymal Stem Cells: Decellularized Extracellular Matrices

Anasiz Y., ÖZGÜL R. K., Uckan-Cetinkaya D.
STEM CELL REVIEWS AND REPORTS , cilt.13, sa.5, ss.587-597, 2017 (SCI-Expanded) identifier identifier identifier

39. A patient with mitochondrial disorder due to a novel mutation in MRPS22

Kilic M., Oguz K., Kilic E., YÜKSEL D., DEMİRCİ H., SAĞIROĞLU M. S., et al.
METABOLIC BRAIN DISEASE , cilt.32, sa.5, ss.1389-1393, 2017 (SCI-Expanded) identifier identifier identifier

40. A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

DURSUN A., YALNIZOĞLU D., Gerdan O. F., Yucel-Yilmaz D., Sagiroglu M. S., YUKSEL B., et al.
CLINICAL DYSMORPHOLOGY , cilt.26, sa.1, ss.1-12, 2017 (SCI-Expanded) identifier identifier identifier

41. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency

KANDEMİR N., Yilmaz D. Y., GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A., DURSUN A., et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY , cilt.165, ss.57-63, 2017 (SCI-Expanded) identifier identifier identifier

42. Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine

GÜLBAKAN B., ÖZGÜL R. K., YÜZBAŞIOĞLU A., Kohl M., Deigner H., ÖZGÜÇ M.
EPMA JOURNAL , cilt.7, 2016 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

43. Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children

Karaca S., Civelek E., Karaca M., ŞAHİNER Ü. M., ÖZGÜL R. K., Kocabas C. N., et al.
SCIENTIFIC REPORTS , cilt.6, 2016 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

44. Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations

Karaca S., Karaca M., Civelek E., ÖZGÜL R. K., ŞEKEREL B. E., Polimanti R.
GENE , cilt.587, sa.2, ss.132-136, 2016 (SCI-Expanded) identifier identifier identifier

45. HOMOZYGOUS GNAL MUTATION ASSOCIATED WITH FAMILIAL CHILDHOOD-ONSET GENERALIZED DYSTONIA

MASUHO I., FANG M., GENG C., ZHANG J., JİANG H., ÖZGÜL R. K., et al.
NEUROLOGY-GENETICS , cilt.2, sa.3, 2016 (ESCI) Creative Commons License identifier identifier

46. Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I

Atceken N., ÖZGÜL R. K., Yilmaz D. Y., TOKATLI A., COŞKUN T., SİVRİ H. S., et al.
TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.46, sa.2, ss.404-408, 2016 (SCI-Expanded) Creative Commons License identifier identifier identifier

47. Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

ÖZLEM U., GÖKMEN ÖZEL H., COŞKUN T., ÖZGÜL R. K., YÜCEL YILMAZ D., BURCU H., et al.
Turkish Journal Of Pediatrics , ss.213-218, 2015 (SCI-Expanded) identifier identifier identifier

48. MCP1 2518 A/G polymorphism affects progression of childhood focal segmental glomerulosclerosis

Besbas N., KALYONCU M., Cil O., ÖZGÜL R. K., Bakkaloglu A., ÖZALTIN F.
RENAL FAILURE , cilt.37, sa.9, ss.1435-1439, 2015 (SCI-Expanded) identifier identifier identifier

49. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

KARACA M., ÖZGÜL R. K., ÜNAL O., Yucel-Yilmaz D., KILIÇ M., Hismi B., et al.
EUROPEAN JOURNAL OF PEDIATRICS , cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded) identifier identifier identifier

50. Ailevi Hiperkolesterolemili Hastaların Mutasyon Analiz Sonuçlarının Simone-Broome Kriterleriyle Değerlendirilmesi

AYKAN H. H., ÖZGÜL R. K., Güzel A., COŞKUN T., DURSUN A.
Türkiye Çocuk Hastalıkları Dergisi , cilt.9, sa.3, ss.176-183, 2015 (SCI-Expanded)

51. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

AKIZU N., CANTAGREL V., ZAKI M. S., Al-Gazali L., WANG X., ROSTI R. O., et al.
NATURE GENETICS , cilt.47, sa.5, ss.528-536, 2015 (SCI-Expanded) Creative Commons License identifier identifier identifier

52. Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: A study in 25 patients with probable ALPS

TAN Ç., ÖZGÜL R. K., CAGDAS-AYVAZ D. N., TEZCAN I., SANAL O.
Turkish Journal of Pediatrics , cilt.57, sa.2, ss.141-145, 2015 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

53. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features

van Huet R. A. C., Siemiatkowska A. M., ÖZGÜL R. K., Yucel D., Hoyng C. B., Banin E., et al.
ACTA OPHTHALMOLOGICA , cilt.93, sa.1, ss.83-94, 2015 (SCI-Expanded) identifier identifier identifier

54. The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey

Ozanturk A., Marshall J. D., Collin G. B., Duzenli S., Marshall R. P., Candan S., et al.
JOURNAL OF HUMAN GENETICS , cilt.60, sa.1, ss.1-9, 2015 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

55. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.

ÜNAL Ö., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., TOKATLI A., SİVRİ H. S., et al.
Turkish Journal Of Pediatrics , cilt.57, ss.388-393, 2015 (SCI-Expanded)

56. Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes

Yucel-Yilmaz D., TARLAN B., KIRATLI H., ÖZGÜL R. K.
DNA AND CELL BIOLOGY , cilt.33, sa.12, ss.876-883, 2014 (SCI-Expanded) identifier identifier identifier

57. Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

ÖZGÜL R. K., Karaca M., Kilic M., KUCUK O., YUCEL-YILMAZ D., UNAL O., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.57, sa.10, ss.596-601, 2014 (SCI-Expanded) identifier identifier identifier

58. Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

ÖZGÜL R. K., YUCEL-YILMAZ D., DURSUN A.
JOURNAL OF CLINICAL IMMUNOLOGY , cilt.34, sa.3, ss.265-266, 2014 (SCI-Expanded) identifier identifier identifier

59. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Karaca M., Hismi B., ÖZGÜL R. K., Karaca S., Yilmaz D. Y., COŞKUN T., et al.
GENE , cilt.534, sa.2, ss.197-203, 2014 (SCI-Expanded) identifier identifier identifier

60. Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report

Kilic M., Kaymaz N., ÖZGÜL R. K.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.6, sa.1, ss.59-61, 2014 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

61. Cobalamin C defect: a patient of late-onset type with homozygous p. R132*mutation

KILIÇ M., ÖZGÜL R. K., DURSUN A., TOKATLI A., Kalkanoglu-Sivri H. S., Anlar B., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.55, sa.6, ss.633-636, 2013 (SCI-Expanded) identifier identifier identifier

62. Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Oezgul R. K., Guezel-Ozantuerk A., Duendar H., Yuecel-Yilmaz D., COŞKUN T., Sivri S., et al.
JOURNAL OF HUMAN GENETICS , cilt.58, sa.10, ss.675-678, 2013 (SCI-Expanded) Creative Commons License identifier identifier identifier

63. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance

Guzel-Ozanturk A., ÖZGÜL R. K., Unal O., Hismi B., Aydin H. I., Sivri S., et al.
GENE , cilt.521, sa.2, ss.293-295, 2013 (SCI-Expanded) identifier identifier identifier

64. Dynamics of the Rhomboid-like Protein RHBDD2 Expression in Mouse Retina and Involvement of Its Human Ortholog in Retinitis Pigmentosa

Ahmedli N. B., Gribanova Y., Njoku C. C., Naidu A., Young A., Mendoza E., et al.
JOURNAL OF BIOLOGICAL CHEMISTRY , cilt.288, sa.14, ss.9742-9754, 2013 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

65. Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alstrom syndrome

Tasdemir S., Guzel-Ozanturk A., Marshall J. D., Collin G. B., ÖZGÜL R. K., Narin N., et al.
CLINICAL GENETICS , cilt.83, sa.1, ss.96-98, 2013 (SCI-Expanded) Creative Commons License identifier identifier identifier

66. THE 48-HOUR TETRAHYDOBIOPTERIN (BH4) LOADING TEST AND LONG-TERM OUTCOME OF PATIENTS WITH BH4 TREATMENT IN TURKISH PHENYLKETONURIA (PKU) PATIENTS

Unal O., Gokmen-Ozel H., Coskun T., Hismi B., Tokatli A., Dursun A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded) identifier

67. MOLECULAR CHARACTERISATION OF BIOTINIDASE GENE MUTATIONS IN TURKISH PATIENTS; AN UPDATE OF THE RESULTS

Karaca M., Yucel D., Unal O., Guzel A., TOKATLI A., COŞKUN T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded) identifier

68. Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Yucel D., YILMAZ M., DURUKAN A. H., ÖZGÜL R. K.
OPHTHALMIC GENETICS , cilt.33, sa.3, ss.144-149, 2012 (SCI-Expanded) identifier identifier identifier

69. OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Yucel-Yilmaz D., Ersoy M., Candan S., Balci M., KILIÇ M., Gokcay G., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded) identifier

70. Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

Dundar H., ÖZGÜL R. K., Guzel-Ozanturk A., Dursun A., Sivri S., Aliefendioglu D., et al.
MOLECULAR GENETICS AND METABOLISM , cilt.106, sa.4, ss.419-423, 2012 (SCI-Expanded) identifier identifier identifier

71. Novel Alu retrotransposon insertion leading to Alstrom syndrome

Taskesen M., Collin G. B., Evsikov A. V., Guzel A., ÖZGÜL R. K., Marshall J. D., et al.
HUMAN GENETICS , cilt.131, sa.3, ss.407-413, 2012 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

72. Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

DUNDAR H., ÖZGÜL R. K., YALNIZOĞLU D., Erdem S., Oguz K. K., Tuncel D., et al.
PEDIATRIC NEUROLOGY , cilt.46, sa.3, ss.172-177, 2012 (SCI-Expanded) identifier identifier identifier

73. Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

KILIÇ M., ÖZGÜL R. K., COŞKUN T., Yucel D., KARACA M. A., SİVRİ H. S., et al.
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/3 , cilt.3, ss.17-23, 2012 (SCI-Expanded) Creative Commons License identifier identifier

74. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

ÖZGÜL R. K., Siemiatkowska A. M., Yucel D., Myers C. A., Collin R. W. J., Zonneveld M. N., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.89, sa.2, ss.253-264, 2011 (SCI-Expanded) Creative Commons License identifier identifier identifier

75. IDENTIFICATION OF NOVEL MUTATIONS IN PROMOTER AND CODING REGIONS IN ALDOB GENE CAUSING HEREDITARY FRUCTOSE INTOLERANCE

Yucel D., ÖZGÜL R. K., COŞKUN T., SİVRİ H. S., TOKATLI A., DURSUN A.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded) identifier

76. MUTATION ANALYSIS IN ARSB GENE IN TURKISH PATIENTS WITH MPS TYPE VI: HIGH PREVALENCE OF L321P MUTATION

ÖZGÜL R. K., Karaca M., SİVRİ H. S., TOKATLI A., COŞKUN T., DURSUN A.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded) identifier

77. THE CARDIAC MANIFESTATION AND RESPONSE TO L-CARNITINE TREATMENT IN 14 CASES WITH PRIMARY SYSTEMIC CARNITINE DEFICIENCY: CORRELATION WITH GENOTYPE

Balci M. C., Yucel D., Ergul Y., ÖZGÜL R. K., Baykal T., Aktuglu-Zeybek C., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded) identifier

78. Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

DURSUN A., ÖZGÜL R. K., Sivri S., TOKATLI A., Guzel A., Mesci L., et al.
JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1 , cilt.1, ss.17-21, 2011 (SCI-Expanded) Creative Commons License identifier identifier identifier

79. Mutations in the G6PC3 Gene Cause Dursun Syndrome

Banka S., Newman W. G., ÖZGÜL R. K., DURSUN A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.10, ss.2609-2611, 2010 (SCI-Expanded) identifier identifier identifier

80. ASSOCIATION OF POLYNEUROPATHY, MENTAL RETARDATION, SENSORINEURAL HEARING LOSS, 6th NERVE PALSY, CONVULSIONS, AND ORAL DYSKINESIA; A PROPABLE NEW NEUROMETABOLIC DISORDER

DURSUN A., YALNIZOĞLU D., DÜNDAR H., ERDEM S., AKARSU A. N., ÖZGÜL R. K.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded) identifier

81. Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients.

Saglar E., Yucel D., Bozkurt B., ÖZGÜL R. K., İRKEÇ M. T., Ogus A.
Molecular vision , cilt.15, ss.1270-6, 2009 (SCI-Expanded) identifier identifier identifier

82. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

DURSUN A., ÖZGÜL R. K., SOYDAŞ A., Tugrul T., GÜRGEY A., ÇELİKER A., et al.
CLINICAL DYSMORPHOLOGY , cilt.18, sa.1, ss.19-23, 2009 (SCI-Expanded) identifier identifier identifier

83. Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease

Gao Y., Danciger M., Ozgul R. K., Gribanova Y. E., Jacobson S. G., Farber D. B.
MOLECULAR VISION , cilt.13, ss.287-292, 2007 (SCI-Expanded) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 36

1. Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family

BİLGİNER GÜRBÜZ B., EROĞLU ERTUĞRUL N. G., KOŞUKCU C., YÜCEL YILMAZ D., ÖZGÜL R. K., YALNIZOĞLU D., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Hollanda, 3 - 06 Eylül 2019, cilt.42, ss.1-479, (Tam Metin Bildiri) identifier identifier

2. Hyperphenylalaninemia due to novel JCDNA12 mutation

SİVRİ H. S., ÇIKI K., YÜCEL YILMAZ D., GÜRSES CİLA H. E., ÖZGÜL R. K., TOKATLI A., et al.
SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Hollanda, 3 - 06 Eylül 2019, cilt.42, ss.324, (Özet Bildiri)

3. Androjen receptörü CAG tekrar polimorfizmi ve pubertal jinekomasti ilişkisi

DÜZÇEKER Y., AKGÜL S., ÖZGÜL R. K., PEHLİVANTÜRK KIZILKAN M., ŞIKLAR Z., KANBUR N., et al.
7. Ulusal Ergen Sağlığı Kongresi, Türkiye, 22 - 24 Nisan 2019, (Özet Bildiri)

4. Identification of genetic mutations in patients with fructose-1,6-bisphosphatase deficiency

KILIÇ M., KASAPKARA C., YÜCEL YILMAZ D., ÖZGÜL R. K.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 4 - 07 Eylül 2018, cilt.41, ss.1-36, (Özet Bildiri)

5. Hedeflenmiş Yeni Nesil Dizileme Yöntemi ile Homozigot TACI Mutasyonu Saptanan Bir CVID Olgusu

TAN Ç., AKARSU A., ÖZBEK B., GÜR ÇETİNKAYA P., ÖZGÜL R. K., ÇAĞDAŞ AYVAZ D. N., et al.
3.KLİNİK İMMÜNOLOJİ KONGRESİ, Türkiye, 12 - 15 Nisan 2017, (Tam Metin Bildiri)

6. SIK GÖRÜLEN DEĞİŞKEN İMMÜNYETMEZLİKLİ (CVID) HASTALARDA YENİ NESİL DİZİLEME HEDEFLENMİŞ GEN YÖNTEMİ İLE MUTASYONLARIN ARAŞTIRILMASIÖN ÇALIŞMA VERİLERİ

TAN Ç., ÖZBEK B., AKARSU A., ÖZGÜL R. K., ÇAĞDAŞ AYVAZ D. N., TEZCAN F. İ.
3.Klinik İmmünoloji Kongresi, İzmir, Türkiye, 12 - 15 Nisan 2017, (Tam Metin Bildiri)

7. Ethylmalonic encephalopathy without ethylmalonic aciduria

YÜCEL YILMAZ D., ÖZGÜL R. K., PEKTAŞ E., serdaroğlu e., YALNIZOĞLU D., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

8. A case with psychomotor regression and leukoencephalopathy due to RNASEH2B gene defect

ÖZGÜL R. K., YÜCEL YILMAZ D., SERDAROĞLU E., YALNIZOĞLU D., TOPÇU M., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

9. pontocerebellar hypoplasia type 6 a case with meonatal seizures hypotonia and microcephaly diagnosed by exome sequencing

DURSUN A., sedaroğlu e., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D.
SSIEM roma, 6 - 09 Eylül 2016, (Özet Bildiri)

10. Increase in the diagnostic rate by exome sequencing in patients with neurometabolic disorders

KILIÇ E., KILIÇ M., ÖZGÜL R. K., YÜCEL YILMAZ D., KAVAK P., YUCETURK B., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

11. Pontocerebellar hypoplasia type 6 a case with neonatal seizures hypotonia and microcephaly diagnosed by exome sequencing

SERDAROĞLU E., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

12. ethymelanonic encephaopathy without etilmelanoc acitüria

YÜCEL YILMAZ D., ÖZGÜL R. K., PEKTAŞ E., SERDARDĞLu e., YALNIZOĞLU D., DURSUN A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

13. gnaL gene mutation and dystonia in two türkish siblings diagnosed by exom sequenicing

GÜNDÜZ M., ÜNAL Ö., ÖZGÜL R. K., DURSUN A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

14. A patient with mitochondrial disorder and mutation in MRPS22 gene

KILIÇ M., KILIÇ E., ÖZGÜL R. K., YÜCEL YILMAZ D., KAVAK P., YUCETURK B., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

15. SLCA29A3 Gene Defect in a Patient with Autoinflammatory Disease and Pure Red Blood Cell Aplasia H Syndrome

ÇAĞDAŞ AYVAZ D. N., ÖZGÜL R. K., ÖZEN S., TEZCAN F. İ.
MIMIC 2016, 27 - 30 Nisan 2016, (Özet Bildiri)

16. STK 4 MST1 Deficiency in Three Families with the Clinical and Immunological Features of AR HIES

ÇAĞDAŞ AYVAZ D. N., oskay S., TAN Ç., Erman B., UZ E., ÖZGÜL R. K., et al.
International Forum on Immunology Research, 8 - 10 Ekim 2015, (Tam Metin Bildiri)

17. STK4 (MST1) deficiency in three families with the clinical and immunologic features of AR-HIES

ÇAĞDAŞ AYVAZ D. N., Halacli S. O., TAN Ç., ERMAN B., UZ YILDIRIM E., Yilmaz D. Y., et al.
4th International Forum on Immunology Research, 08 Ekim 2015, (Özet Bildiri)

18. Splicing mutation in aminophospholipid transporter protein ATP8A2 in a Turkish family

DURSUN A., YALNIZOĞLU D., YÜCEL YILMAZ D., serdaroğlu E., Unal Ö., görmez Z., et al.
SSIEM, 4 - 06 Eylül 2015

19. Mutation screening study in Turkish patients with L 2 hydroxyglutaric aciduria

YÜCEL YILMAZ D., ÖZGÜL R. K., Özlem u., COŞKUN T., SİVRİ H. S., TOKATLI A., et al.
SSIEM, 4 - 07 Eylül 2015

20. SNX14 Sorting Nexin 14 gene mutation causes a new syndromic form of cerebellar atrophy in a Turkish family

ÖZGÜL R. K., YÜCEL YILMAZ D., Ömer g., YALNIZOĞLU D., Mahmut s., DURSUN A.
SSIEM, 4 - 07 Eylül 2015

21. Rhizomelic chondrodysplasia punctata type II a case diagnosed by whole exome sequencing

DURSUN A., PEKTAŞ E., YÜCEL YILMAZ D., ÖZGÜL R. K.
SSIEM, 4 - 07 Eylül 2015

22. Exome sequencing results in unknown genetic metabolic neurometabolic disorders

KILIÇ M., ÖZGÜL R. K., KILIÇ E., YÜCEL YILMAZ D., KAVAK P., YUCETURK B., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015

23. Vacuolar storage material in a family with juvenile parkinsonism andmutations in FBXO7

ESRA S., ÖZGÜL R. K., YALNIZOĞLU D., MADEO M., MALANDRİNİ A., KLEE E., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015

24. Galactosemia case with a novel mutation

KILIÇ M., ZENCİROĞLU A., GÖKSUN E., YÜCEL YILMAZ D., ÖZGÜL R. K.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM, 1 - 04 Eylül 2015 Creative Commons License identifier identifier identifier

25. A case of fucosidosis with a new mutation in FUCA1 gene

PEKTAŞ E., YÜCEL YILMAZ D., ÖZGÜL R. K., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015

26. Two new Turkish siblings with MEGDEL syndrome and novel mutation

ÖZLEM U., GÜNDÜZ M., UNAL S., YÜCEL YILMAZ D., ÖZGÜL R. K.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015

27. GC MS Based Metabolomic Profiling of Human Bone Marrow

Ayhan S., REÇBER T., ÖZKAN E., NEMUTLU E., ÖZGÜL R. K., ÇETİNKAYA F. D., et al.
11th International Symposium on Pharmaceutical Sciences, 9 - 12 Haziran 2015, (Özet Bildiri)

28. Ekzom Dizileme ile Bilinmeyen Metabolik Nörometabolik Hastalıkların ve Sorumlu Genlerin Tanımlanması

Kılıç M., ÖZGÜL R. K., Kılıç E., YÜCEL YILMAZ D., Kavak P., Yücetürk B., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

29. Türk İzovalerik Asidemi Hastalarında Genotip Fenotip İlişkisi

Kılıç M., ÖZGÜL R. K., KARACA M., Küçük Ö., YÜCEL YILMAZ D., ALİEFENDİOĞLU D., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

30. Lizozom Otofagozom Defekti Sonucu Serebellar Atrofiye Neden Olan Yeni Bir Gen SNX14 Tanımlanması

ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., MAHMUT S., DURSUN A.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, 1, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

31. Dirençli Hipoglisemi Hipertrofik Kardiyomiyopati ve Ensefalopatili Bir Hastada Ekzom Dizileme ile Mitokondriyal TSFM Gen Defekti

DURSUN A., ÖMER FARUK G., MELİS P., YÜCEL YILMAZ D., TOPÇU M., YALNIZOĞLU D., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

32. Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen Defekti

ÖZGÜL R. K., YÜCEL YILMAZ D., SANİYE Ö., YALNIZOĞLU D., TURANLI G., ESRA S., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

33. Kolay Vaka Zor Tanı Galaktozemi ve Yeni Bir Mutasyon

KILIÇ M., AYŞEGÜL Z., ESİN G., YÜCEL YILMAZ D., ÖZGÜL R. K.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

34. Türk Hastalarda Biyotinidaz Gen Mutasyonlarının Moleküler Karakterizasyonu

KARACA M., ÖZGÜL R. K., Ünal Ö., YÜCEL YILMAZ D., Kılıç M., Burcu H., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

35. Ekzom Dizi Analizi ile MTO1 Mitochondriyal tRNA Modifier Geninde Saptanan Yeni Bir Mutasyon

YÜCEL YILMAZ D., ÖZGÜL R. K., ÖMER FARUK G., ESRA S., BETÜL Y., SAĞIROĞLU M., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

36. Hereditary spastic paraplegia with predominant cerebel lar signs due to KIF1C mutation in two brothers

ÖZGÜL R. K., Esra s., YALNIZOĞLU D., YÜCEL YILMAZ D., TOPÇU M., ZZ G., et al.
SSIEM, 4 - 07 Eylül 2015, (Tam Metin Bildiri)
Kitaplar 1

1. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

KILIÇ M., ÖZGÜL R. K., COŞKUN T., YÜCEL YILMAZ D., KARACA M., SİVRİ H. S., et al.
JIMD Reports Case and Research Reports 2011 3, , Editör, SPRINGER, 2011
Metrikler

Yayın

120

Yayın (WoS)

83

Yayın (Scopus)

83

Atıf (WoS)

1090

H-İndeks (WoS)

19

Atıf (Scopus)

1148

H-İndeks (Scopus)

19

Proje

29

Tez Danışmanlığı

10

Açık Erişim

18
BM Sürdürülebilir Kalkınma Amaçları