Hande Kaymakcalan

Acibadem, Turkey

Last Updated: 09/26/2026

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Found 17 publications

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Journal: Nature

Published: September 20, 2023

Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.

Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.

Journal: American journal of medical genetics. Part A

Published: October 23, 2022

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

Journal: Anatolian journal of cardiology

Published: February 22, 2022

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Journal: Molecular genetics & genomic medicine

Published: November 06, 2021

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Journal: Molecular genetics & genomic medicine

Published: April 01, 2021

1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.

1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.

Journal: Indian journal of pediatrics

Published: January 26, 2019

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Journal: Nature genetics

Published: August 19, 2017

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Journal: American journal of medical genetics. Part A

Published: July 10, 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Journal: JAMA dermatology

Published: April 14, 2017

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Journal: Cold Spring Harbor molecular case studies

Published: January 24, 2017

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Journal: American journal of human genetics

Published: May 01, 2016

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Journal: Pediatric neurology

Published: July 21, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026