Arş. Gör. CAN KOŞUKCU

Yayın Ağı

Makaleler 29

1. Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation

Kilic M., Sayar E., Icil S., Dogan S., Gokce-Altas G., KOŞUKCU C., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2025 (SCI-Expanded, Scopus)

2. 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

3. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Riedhammer K. M., Nguyen T. T., KOŞUKCU C., Calzada-Wack J., Li Y., Assia Batzir N., et al.

Kidney International , cilt.105, sa.4, ss.844-864, 2024 (SCI-Expanded, Scopus)

4. New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant

Kılıç E., KOŞUKCU C.

American Journal of Medical Genetics, Part A , cilt.194, sa.3, 2024 (SCI-Expanded, Scopus)

5. A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)

SAYGILI S. K., KOŞUKCU C., BAŞTUĞ T., DOĞAN EKİCİ A. I., YILMAZ E. M., Kalyoncu A. U., et al.

Clinical Genetics , cilt.104, sa.6, ss.679-685, 2023 (SCI-Expanded, Scopus)

6. Comparing the melissopalynological and next generation sequencing (NGS) methods for the determining of botanical origin of honey

ÖZKÖK A., AKEL BİLGİÇ H., Kosukcu C., Arık G., Canlı D., YET İ., et al.

Food Control , cilt.148, 2023 (SCI-Expanded, Scopus)

7. One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Bekircan-Kurt C. E., ÇETİNKAYA A., GÖÇMEN R., KOŞUKCU C., Soylemezoglu F., ARSAVA E. M., et al.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES , cilt.30, sa.9, 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. Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

KINDIŞ E., ŞİMŞEK KİPER P. Ö., KOŞUKCU C., TAŞKIRAN Z. E., GÖÇMEN R., Utine E., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, ss.1888-1896, 2021 (SCI-Expanded, Scopus)

10. Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey

Ozbek B., TAN Ç., Yaz I., KOŞUKCU C., Esenboga S., Cetinkaya P. G., et al.

IMMUNOLOGICAL INVESTIGATIONS , cilt.50, sa.4, ss.363-371, 2021 (SCI-Expanded, Scopus)

11. Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study

Yaz I., Ozbek B., Ng Y. Y., Cetinkaya P. G., Halacli S., TAN Ç., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.40, sa.3, ss.494-502, 2020 (SCI-Expanded, Scopus)

12. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N., Kosukcu C., Taskiran Z., Simsek K., Utine G., Gucer S., et al.

Fetal and pediatric pathology , cilt.39, sa.2, ss.163-171, 2020 (SCI-Expanded, Scopus)

13. 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, Scopus, TRDizin)

14. Current Diagnostic Methods in Primary Ciliary Dyskinesia: Hacettepe University Experience

EMİRALİOĞLU N., TAŞKIRAN Z. E., KOŞUKCU C., BİLGİÇ E., ATİLLA P., KAYA Z. B., et al.

Turkish Thoracic Journal , cilt.20, ss.17, 2019 (Scopus, TRDizin)

15. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome

Simsek-Kiper P. O., Taskiran E., KOŞUKCU C., ARSLAN U. E., Cormier-Daire V., Gonc N., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.179, sa.7, ss.1157-1172, 2019 (SCI-Expanded, Scopus)

16. Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum

Akgün D., Demir G., Kosukcu C., Taskiran E., Simsek-Kiper P., Utine G., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.62, sa.6, 2019 (SCI-Expanded, SSCI, Scopus)

17. A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate

Simsek-Kiper P. O., KOŞUKCU C., Akgun-Dogan O., GÖÇMEN R., ÜTİNE G. E., SOYER T., et al.

European Journal of Medical Genetics , cilt.62, sa.1, ss.21-26, 2019 (SCI-Expanded, Scopus)

18. A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behcet's Disease

Taskiran E., Sonmez H., Kosukcu C., Tavukcuoglu E., Yazici G., Esendagli G., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.39, sa.1, ss.99-105, 2019 (SCI-Expanded, Scopus)

19. Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Batu E. D., Koşukcu C., Taşkıran E., Sahin S., Akman S., Sözeri B., et al.

JOURNAL OF RHEUMATOLOGY , cilt.45, sa.12, ss.1671-1679, 2018 (SCI-Expanded, Scopus)

20. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis

Simsek-Kiper P., Taskiran E., Kosukcu C., Urel-Demir G., Akgun-Dogan O., Yilmaz G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.176, sa.9, ss.2009-2016, 2018 (SCI-Expanded, Scopus)

21. Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis

Taşkıran E., Sönmez H., Ayvaz D. N., Koşukcu C., Batu E. D., Esenboğa S., et al.

CLINICAL IMMUNOLOGY , cilt.187, ss.92-94, 2018 (SCI-Expanded, Scopus)

22. A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D., KOŞUKCU C., Taskiran E., Simsek P. O., ÜTİNE G. E., BODUROĞLU O. K., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.363, 2018 (SCI-Expanded, Scopus)

23. Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The Skeletal Dysplasia registry

ŞİMŞEK KİPER P. Ö., Utine G. E., TAŞKIRAN Z. E., KOŞUKCU C., ALANAY Y., ALİKAŞİFOĞLU M., et al.

European Journal Of Human Genetics , 2018 (SCI-Expanded, Scopus)

24. Neonatal-Onset Recurrent Guillain-Barre Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Ardicli D., TASKIRAN E. Z., KOŞUKCU C., Temucin Ç. M., OGUZ K. K., HALILOGLU G., et al.

NEUROPEDIATRICS , cilt.48, sa.6, ss.477-481, 2017 (SCI-Expanded, Scopus)

25. HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., Taskiran E. Z., KOŞUKCU C., KARAOSMANOĞLU B., GÜLERAY N., Dogan O. A., et al.

European Journal of Medical Genetics , cilt.60, sa.5, ss.279-283, 2017 (SCI-Expanded, Scopus)

26. Whole Exome Sequencing in Early Onset Systemic Lupus Erythematosus

BATU AKAL E. D., KOŞUKCU C., Taskiran E. Z., AKMAN S., Ozturk K., SÖZERİ B., et al.

ARTHRITIS & RHEUMATOLOGY , cilt.68, 2016 (SCI-Expanded, Scopus)

27. The effects of larval diet restriction on developmental time, preadult survival, and wing length in Drosophila melanogaster

Güler P., Ayhan N., Koşukcu C., ÖNDER B. Ş.

TURKISH JOURNAL OF ZOOLOGY , cilt.39, sa.3, ss.395-403, 2015 (SCI-Expanded, Scopus, TRDizin)

28. Mutations In Anks6 Cause A Nephronophthisis-like Phenotype With End Stage Renal Disease

Taskiran E., Korkmaz E., Gucer S., KOŞUKCU C., Kaymaz F., Koyunlar C., et al.

PEDIATRIC NEPHROLOGY , cilt.29, sa.9, ss.1820, 2014 (SCI-Expanded, Scopus)

29. Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD

Taskiran E. Z., Korkmaz E., Gucer S., KOŞUKCU C., Kaymaz F., Koyunlar C., et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY , cilt.25, sa.8, ss.1653-1661, 2014 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 13

1. Sendromik olmayan zihinsel yetersizlikte tüm ekzom dizilemenin tanısal verimi

TAŞKIRAN Z. E., KARAOSMANOĞLU B., KOŞUKCU C., ÜREL DEMİR G., akgün doğan ö., Kiper şimşek P. Ö., et al.

16. Tıbbi Biyoloji ve Genetik Kongresi, Türkiye, 25 - 27 Ekim 2019, (Tam Metin Bildiri)

2. The Skeletal Dysplasia Registry: Hacettepe Experience

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ÜTİNE G. E., ALANAY Y., et al.

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norveç, 11 - 14 Eylül 2019, (Tam Metin Bildiri)

3. 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)

4. The Correlation Between Clinical Characteristics and Molecular Genetic Analysis Results of Primary Ciliary Dyskinesia Patients: Hacettepe University Experience

EMİRALİOĞLU N., Taskiran E., KOŞUKCU C., BİLGİÇ E., ATİLLA P., Kaya B., et al.

International Congress of the European-Respiratory-Society (ERS), Madrid, İspanya, 28 Eylül - 02 Ekim 2019, cilt.54, (Özet Bildiri)

5. TIP III HEREDITER ANJIYOÖDEM ÖN TANILI HASTALARDA YENI NESIL DIZILEME ILE YENI GENLERIN ARAŞTIRILMASI: ÖN VERILER

Koşukcu C., Uysal Soyer Ö., Karakaya G., Şahiner Ü. M., Damadoğlu E., Ocak M., et al.

XXV. Ulusal Allerji ve Klinik İmmünoloji Kongresi, Antalya, Türkiye, 17 - 21 Kasım 2018, (Yayınlanmadı)

6. A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D., KOŞUKCU C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., UTİNE G. E., BODUROĞLU O. K., et al.

57th Annual ESPE European Society for Paediatric Endocrinology, Atina, Yunanistan, 27 - 29 Eylül 2018, cilt.90, ss.351-352, (Özet Bildiri)

7. Clinical, demographic and nosologic characterization of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry.

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ALANAY Y., et al.

European Human Genetics Conference, Milan, Italy, June 16-19, 2018., Milan, İtalya, 16 - 19 Haziran 2018, (Tam Metin Bildiri)

8. PGAP3 geninde yeni tanımlanmış mutasyona bağlı hiperfosfatazya mental retardasyon sendromu

AKGÜN DOĞAN Ö., ÜREL DEMİR G., KOŞUKCU C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017, (Tam Metin Bildiri)

9. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: a RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.

International Skeletal Dysplasia Society Meeting, 20 - 23 Eylül 2017, (Tam Metin Bildiri)

Metrikler

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Yayın (Scopus)

Atıf (WoS)

170

H-İndeks (WoS)

Atıf (Scopus)

220

H-İndeks (Scopus)

Atıf (Scholar)

155

H-İndeks (Scholar)

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