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List of works by Memnune Yüksel-Apak

A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family

scientific article published on April 2003

A large duplication involving the IHH locus mimics acrocallosal syndrome

scientific article

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

scientific article

A somatic origin of homologous Robertsonian translocations and isochromosomes.

scientific article published in February 1994

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children

scientific article

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss

scientific article

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family

scientific article

Identification of the parental origin of polysomy in two 49,XXXXY cases ⬇️

scientific article (publication date: June 1997)

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

scientific article

Maternal uniparental disomy 22 has no impact on the phenotype

scientific article published in January 1994

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

Recessive omodysplasia: five new cases and review of the literature

scientific article published on 18 October 2003

hKChIP2 is a functional modifier of hKv4.3 potassium channels: cloning and expression of a short hKChIP2 splice variant

scientific article (publication date: November 2001)

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