Can Kosukcu
Ankara, Turkey
Last Updated: 09/26/2026
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Found 37 publications
Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.
Journal: Molecular genetics and metabolism
Published: April 28, 2026
BMP6 contributes as a blood-based biomarker to clinical discrimination of patients with carotid artery stenosis: Decoding the transcriptome of plaque biology.
Journal: Journal of investigative medicine : the official publication of the American Federation for Clinical Research
Published: July 14, 2025
Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach.
Journal: Noro psikiyatri arsivi
Published: February 13, 2025
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Journal: American journal of medical genetics. Part A
Published: December 13, 2024
Evaluation of Blood-Based Biomarkers for Clinical Discrimination of Asymptomatic Carotid Artery Stenosis Patients with Ulcerated Plaques.
Journal: Current genomics
Published: September 29, 2024
Phenotypic diversity in NAXE mutations.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 26, 2024
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
Journal: American journal of medical genetics. Part A
Published: January 16, 2024
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
Journal: Clinical genetics
Published: May 18, 2023
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Journal: medRxiv : the preprint server for health sciences
Published: March 30, 2023
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Journal: Kidney international
Published: March 16, 2023
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
Journal: American journal of medical genetics. Part A
Published: January 01, 2023
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Journal: Pediatric gastroenterology, hepatology & nutrition
Published: April 20, 2022
Last Updated: 09/26/2026