Zobrazeno 1 - 4 of 4 pro vyhledávání: '"Mehmet Ali Soylemez"'
1
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
Autor: Bilge Geckinli, Ayberk Turkyilmaz, Ceren Alavanda, Gunes Sager, Esra Arslan Ates, Mehmet Ali Soylemez, Ahmet Arman
Publikováno v: Clinical Dysmorphology. 32:55-61
Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::382f0534eb3ba108c40fa057ddbd253a
https://doi.org/10.1097/mcd.0000000000000454
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2
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
Autor: Ayberk Turkyilmaz, Ceren Alavanda, Esra Arslan Ates, Bilgen Bilge Geckinli, Hamza Polat, Mehmet Gokcu, Taner Karakaya, Alper Han Cebi, Mehmet Ali Soylemez, Ahmet İlter Guney, Pinar Ata, Ahmet Arman
Publikováno v: J Assist Reprod Genet
PURPOSE: Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbc1e5d6289dab4c13ee5da37266ee3
https://doi.org/10.1007/s10815-022-02408-0
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