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List of works by Yavuz Sahin

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

scientific article

Celiac disease in Williams-Beuren syndrome

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

scientific article published on 14 November 2016

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

scientific article published on 06 May 2020

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

scientific article published on 16 August 2017

Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report

scientific article published on 01 October 2014

Structural and genomic variation in preterm birth

scientific article published on 28 July 2016

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report

scientific article published on 01 April 2017

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