Dr. Öğr. Üyesi DİDEM YÜCEL YILMAZ

Yayın Ağı

Makaleler 29

1. 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, Scopus)

2. A Rare Kidney Involvement of Lysinuric Protein Intolerance: Membranoproliferative Glomerulonephritis

BALTU D., SERİN O., AKSU T., HIZARCIOĞLU GÜLŞEN H., ORHAN D., YILDIZ Y., et al.

PEDIATRIC NEPHROLOGY , sa.1, 2024 (SCI-Expanded, Scopus)

3. 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, Scopus) Sürdürülebilir Kalkınma

4. From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Ozbek E. D., Nezerli J., AKAR H. T., Yilmaz D. Y., DURSUN A., GÖÇMEN R., et al.

ARCHIVES OF EPILEPSY , cilt.30, sa.2, ss.53-55, 2024 (ESCI, Scopus, TRDizin)

5. EFL Writing Teacher Education and Professional Development in Turkiye

Karaca M., Uysal H. H.

EFL WRITING TEACHER EDUCATION AND PROFESSIONAL DEVELOPMENT , ss.54-64, 2024 (SSCI)

6. 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, Scopus)

7. 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, Scopus)

8. 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, Scopus, TRDizin)

9. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.63, sa.11, 2020 (SCI-Expanded, Scopus)

10. 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, Scopus)

11. 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, Scopus)

12. 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, Scopus)

13. 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, Scopus)

14. 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, Scopus)

15. 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, Scopus)

16. 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, Scopus)

17. 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, Scopus)

18. 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, Scopus, TRDizin)

19. 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, Scopus, TRDizin)

20. 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, Scopus)

21. 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, Scopus, TRDizin)

22. 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, Scopus)

23. 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, Scopus)

24. 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, Scopus)

25. 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, Scopus)

26. 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, Scopus)

27. A Case of Glutaric Aciduria Type I with a Novel Mutation

Unal N. U., KOR D., YÜCEL YILMAZ D., GÜL MERT G., Mungan N. O.

CUKUROVA MEDICAL JOURNAL , cilt.38, sa.4, ss.809-812, 2013 (ESCI, TRDizin)

28. 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, Scopus)

29. 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, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 19

1. Mapping of Candidate Gene Locus and Detection of SNX14 Gene Mutation by SNP Microarray Method in a Family with Inherited Metabolic Disease

YÜCEL YILMAZ D.

The 6th International Congress on Applied Biological Sciences, Türkiye, 08 Aralık 2021, (Özet Bildiri)

2. Genetic Technologies in Inborn Errors of Metabolism

YÜCEL YILMAZ D.

27th BCLF 2019 / 30th TBS National Biochemistry Congress/ 2019, 27 - 31 Ekim 2019, (Özet Bildiri)

3. 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)

4. VPS33A gen defektine bağlı yeni bir lizozomal depo hastalığı

YÜCEL YILMAZ D.

XIV. ulusal metabolik hastalıklar be beslenme kongresi, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)