Kısmet Çıkı

10PUBLICATIONS
26CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsMedical biochemistry - amino acids and metabolitesInfant and child healthHuman biophysicsNeonatology
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Publications (10)

|Feb 23, 2026
Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.

Ayşe Şenol Ersak, Tuğçe Çağıran, Ayşen Koçyiğit

|Nov 08, 2025
Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period.

Aysegul Demirsu, Ferid Aliyev, Elif Yucel

|Feb 15, 2025
Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız

|Dec 18, 2024
High prevalence of low bone mineral density in young adults with phenylketonuria.

Kısmet Çıkı, Ayça Burcu Kahraman, Halil Tuna Akar

|May 06, 2024
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.

Ceren Alavanda, Emine İpek Ceylan, Sebile Kılavuz

|Dec 20, 2022
Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family.

Kısmet Çıkı, Rıza Köksal Özgül, Yılmaz Yildiz

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