Ayfer Ulgenalp - Publications

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 05, 2025

Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease.

Journal: Human molecular genetics

Published: August 23, 2025

Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.

Journal: Molecular vision

Published: July 01, 2025

Rare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 28, 2025

Emergence of osteolysis as a new radiological feature in a case with a novel BMP2 gene variant.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 25, 2025

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.

Journal: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology

Published: August 08, 2024

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

Journal: Molecular syndromology

Published: June 14, 2024

Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision-Making.

Journal: Brain and behavior

Published: April 24, 2024

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Journal: Neurogenetics

Published: November 20, 2023

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Journal: Molecular syndromology

Published: June 24, 2023

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

Journal: Clinical dysmorphology

Published: May 17, 2023

Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: November 17, 2022