Tulay Tos

Ulus, 06080, Turkey

Last Updated: 09/26/2026

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Found 27 publications

Domain specific phenotypic expansion associated with variants in MACF1.

Domain specific phenotypic expansion associated with variants in MACF1.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases).

Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases).

Journal: Human genetics

Published: February 14, 2025

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: February 14, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: Nature communications

Published: August 09, 2023

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Journal: American journal of human genetics

Published: March 09, 2021

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Journal: Developmental cell

Published: May 13, 2019

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 30, 2019

Mothers of 0-3-year-old children with Down syndrome: Effects on quality of life.

Mothers of 0-3-year-old children with Down syndrome: Effects on quality of life.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 07, 2018

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Journal: American journal of human genetics

Published: June 19, 2018

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Journal: Neuron

Published: February 24, 2016

A Rare Case of Hanhart Syndrome with Mild Developmental Delay.

A Rare Case of Hanhart Syndrome with Mild Developmental Delay.

Journal: Genetic counseling (Geneva, Switzerland)

Published: January 01, 2016

A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

Journal: Genetic counseling (Geneva, Switzerland)

Published: June 06, 2015

Showing 1-12 of 27

Last Updated: 09/26/2026