Can Koşukcu

6PUBLICATIONS
37CO-AUTHORS
Medical biochemistry - amino acids and metabolitesChemical thermodynamics and energeticsGenetics not elsewhere classifiedCancer geneticsMedical genetics (excl. cancer genetics)
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Publications (6)

|Mar 06, 2025
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

Mustafa Kılıç, Esra Sayar, Suzan İcil

|May 06, 2024
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül

|Oct 25, 2023
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.

Esra Kılıç, Can Koşukcu

|Dec 01, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Merve Güvenoğlu, Pelin Özlem Şimşek-Kiper, Can Koşukcu

|May 20, 2021
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Yılmaz Yıldız, Can Koşukcu, Damla Aygün

|Mar 22, 2021
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.

Erdem Kındış, Pelin Özlem Simsek-Kiper, Can Koşukcu

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Frequent Collaborators

2 joint publications

Pelin Özlem Simsek-Kiper

2 joint publications

Ekim Z Taşkıran

2 joint publications

Rahşan Göçmen

2 joint publications

Eda Utine