Mustafa S. Kılıc

Ankara, Turkey

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 47 publications

Hypercobalaminemia in children: clinical characteristics and ınherited metabolic diagnoses in a tertiary-center cohort.

Hypercobalaminemia in children: clinical characteristics and ınherited metabolic diagnoses in a tertiary-center cohort.

Journal: European journal of pediatrics

Published: June 23, 2026

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Journal: Molecular genetics and metabolism

Published: April 28, 2026

Uses of miRNAs in Pediatric Diseases.

Uses of miRNAs in Pediatric Diseases.

Journal: Turkish archives of pediatrics

Published: April 27, 2026

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 31, 2026

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

Journal: American journal of medical genetics. Part A

Published: December 26, 2025

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.

Journal: Molecular syndromology

Published: November 02, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 2025

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.

Journal: The Turkish journal of pediatrics

Published: September 11, 2025

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.

Journal: Klinische Padiatrie

Published: August 11, 2025

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia.

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia.

Journal: Molecular syndromology

Published: July 17, 2025

Showing 1-12 of 47

Last Updated: 09/26/2026