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Turkish Journal of Medical Sciences|May 30, 2024
Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skillsŞenay Güven Baysal, Feyzullah Necati Arslan, Mehmet Akif Büyükavci, et al.
American Journal of Medical Genetics. Part A|February 24, 2026
ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift VariantZeynep Esener, Murat Öztürk, Esra Habiloğlu, et al.
Molecular Syndromology|January 7, 2026
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing VariantsKubra Ates, Murat Ozturk, Zeynep Esener, et al.
Molecular Biology Reports|June 14, 2024
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated familiesMurat Ozturk, Kubra Ates, Zeynep Esener, et al.
Clinical Genetics|July 23, 2025
Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 CasesZeynep Esener, Mehmet Akif Yücesoy, Alper Gezdirici, et al.
Clinical Dysmorphology|November 9, 2018
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutationMehmet A Erdogan, Yuksel Seckin, Muhsin M Harputluoglu, et al.
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