Yavuz Sahin

Kahramanmaras, 46050, Turkey

Last Updated: 09/26/2026

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Found 12 publications

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Journal: American journal of human genetics

Published: December 18, 2018

Arrhythmia in thiamine responsive megaloblastic anemia syndrome.

Arrhythmia in thiamine responsive megaloblastic anemia syndrome.

Journal: The Turkish journal of pediatrics

Published: December 05, 2018

A hereditary angioedema screening on an index case: Turkey.

A hereditary angioedema screening on an index case: Turkey.

Journal: Asian Pacific journal of allergy and immunology

Published: August 18, 2018

RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy.

RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy.

Journal: Indian journal of pediatrics

Published: February 02, 2018

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G>T", at the SERPING1 gene.

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, "1033G>T", at the SERPING1 gene.

Journal: Postepy dermatologii i alergologii

Published: November 30, 2017

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Journal: American journal of medical genetics. Part A

Published: December 16, 2016

DiGeorge Syndrome Associated with Azoospermia: First case in the literature.

DiGeorge Syndrome Associated with Azoospermia: First case in the literature.

Journal: Turkish journal of urology

Published: November 08, 2016

First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X.

First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X.

Journal: Journal of pediatric genetics

Published: October 11, 2016

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Journal: Acta neurologica Belgica

Published: September 14, 2016

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

Journal: Brain & development

Published: July 22, 2016

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).

Journal: Brain & development

Published: February 10, 2016

Structural and genomic variation in preterm birth.

Structural and genomic variation in preterm birth.

Journal: Pediatric research

Published: January 17, 2016

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Last Updated: 09/26/2026