Ercan Mihci
Antalya, Turkey
Last Updated: 09/26/2026
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Found 41 publications
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.
Journal: American journal of medical genetics. Part A
Published: April 26, 2025
Association of certain biochemical parameters related to bone cycle with genotype in MPS IIIB patients.
Journal: Turkish journal of medical sciences
Published: September 24, 2024
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Journal: American journal of medical genetics. Part A
Published: June 21, 2022
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.
Journal: Gene
Published: October 06, 2021
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Journal: Functional & integrative genomics
Published: July 09, 2021
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
Journal: Indian journal of pediatrics
Published: June 07, 2021
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Journal: Journal of human genetics
Published: May 29, 2020
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Journal: Bone
Published: November 18, 2019
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.
Journal: Cytogenetic and genome research
Published: September 24, 2019
A clinical scoring system for congenital contractural arachnodactyly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2019
Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.
Journal: American journal of medical genetics. Part A
Published: January 26, 2019
Last Updated: 09/26/2026