Ahmet Yesilyurt
Acibadem, Turkey
Last Updated: 09/26/2026
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Found 26 publications
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A).
Journal: Stem cell research
Published: May 19, 2026
Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: April 21, 2026
Evolving Concepts and Contemporary Management of Early-Stage Breast Cancer: An Evidence-Based Approach to Grey Zones from a Comprehensive Breast Unit Part 1: Locoregional Therapy, Pathology, Radiology.
Journal: European journal of breast health
Published: March 24, 2026
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.
Journal: Balkan medical journal
Published: December 01, 2025
De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.
Journal: American journal of medical genetics. Part A
Published: November 04, 2025
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 29, 2025
Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.
Journal: Turkish archives of pediatrics
Published: September 17, 2025
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 14, 2025
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: June 20, 2025
A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.
Journal: Molecular syndromology
Published: May 31, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 2024
Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.
Journal: Molecular syndromology
Published: September 24, 2024
Last Updated: 09/26/2026