Can Koşukcu

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Cerebrospinal Fluid

Intellectual Disability

Gas Chromatography Mass Spectrometry

Top Venues

American journal of medical genetics. Part A

Pediatric gastroenterology, hepatology & nutrition

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Esra Kılıc, Can Koşukcu
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant. American journal of medical genetics. Part A (2023)
Merve Soğukpınar, Pelin Özlem Şimsek Kiper, Can Koşukcu, Ekim Zihni Taşkiran, Inci Nur Saltik Temizel, Kadri Safak Gucer, Gülen Eda Utine, Koray Boduroglu
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review. Pediatric gastroenterology, hepatology & nutrition 25 (6) (2022)
Erdem Kindis, Pelin Özlem Şimsek Kiper, Can Koşukcu, Ekim Zihni Taşkiran, Rahşan Gocmen, Gülen Eda Utine, Göknur Haliloğlu, Koray Boduroglu, Mehmet Alikaşifoğlu
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features. American journal of medical genetics. Part A 185 (6) (2021)
Yilmaz Yildiz, Can Koşukcu, Damla Aygün, Meltem Akcaboy, Fatma Zehra Oztek Celebi, Yasemin Tasci Yildiz, Gulseren Sahin, Caner Aytekin, Deniz Yüksel, İncilay Lay, Rıza Köksal Özgül, Ali Dursun
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. Clinical genetics 100 (3) (2021)