Gokhan Nalbant
Acibadem, Turkey
Last Updated: 09/26/2026
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Found 8 publications
A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.
Journal: The Yale journal of biology and medicine
Published: October 02, 2023
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Journal: The Yale journal of biology and medicine
Published: October 02, 2023
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
Journal: European journal of human genetics : EJHG
Published: August 30, 2021
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Journal: American journal of medical genetics. Part A
Published: June 18, 2021
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.
Journal: European journal of medical genetics
Published: July 17, 2020
Novel EDAR mutation in tooth agenesis and variable associated features.
Journal: European journal of medical genetics
Published: September 13, 2019
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
Journal: Clinical genetics
Published: June 07, 2019
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
Journal: Journal of medical genetics
Published: August 23, 2017
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Last Updated: 09/26/2026