Res. Asst. CAN KOŞUKCU

Publication Network

Published journal articles indexed by SCI, SSCI, and AHCI

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, vol.30, no.9, 2021 (Journal Indexed in SCI)

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, vol.63, no.4, pp.691-696, 2021 (Journal Indexed in SCI)

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, vol.185, pp.1888-1896, 2021 (Journal Indexed in SCI)

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, vol.50, no.4, pp.363-371, 2021 (Journal Indexed in SCI)

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, vol.39, no.2, pp.163-171, 2020 (Journal Indexed in SCI Expanded)

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, vol.40, no.3, pp.494-502, 2020 (Journal Indexed in SCI)

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, vol.62, no.1, pp.19-23, 2020 (Journal Indexed in SCI)

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, vol.179, no.7, pp.1157-1172, 2019 (Journal Indexed in SCI)

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, vol.62, no.6, 2019 (Journal Indexed in SCI Expanded)

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, vol.39, no.1, pp.99-105, 2019 (Journal Indexed in SCI)

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, vol.62, no.1, pp.21-26, 2019 (Journal Indexed in SCI Expanded)

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, vol.45, no.12, pp.1671-1679, 2018 (Journal Indexed in SCI)

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, vol.176, no.9, pp.2009-2016, 2018 (Journal Indexed in SCI)

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, vol.187, pp.92-94, 2018 (Journal Indexed in SCI)

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 (Journal Indexed in SCI)

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, vol.90, pp.363, 2018 (Journal Indexed in SCI)

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, vol.48, no.6, pp.477-481, 2017 (Journal Indexed in SCI)

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, vol.60, no.5, pp.279-283, 2017 (Journal Indexed in SCI Expanded)

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, vol.68, 2016 (Journal Indexed in SCI)

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, vol.39, no.3, pp.395-403, 2015 (Journal Indexed in SCI)

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, vol.29, no.9, pp.1820, 2014 (Journal Indexed in SCI)

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, vol.25, no.8, pp.1653-1661, 2014 (Journal Indexed in SCI)

Articles Published in Other Journals

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, vol.20, pp.17, 2019 (Refereed Journals of Other Institutions)

Refereed Congress / Symposium Publications in Proceedings

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, Turkey, 25 - 27 October 2019

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, Norway, 11 - 14 September 2019

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, Netherlands, 3 - 06 September 2019, vol.42, pp.1-479

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.

European-Respiratory-Society (ERS) International Congress, Madrid, Spain, 28 September - 02 October 2019, vol.54

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, Turkey, 17 - 21 November 2018

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, Greece, 27 - 29 September 2018, vol.90, pp.351-352

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, Italy, 16 - 19 June 2018

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, Turkey, 11 - 13 October 2017

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 September 2017

Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings