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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11.
Genet Med. 2021.
PMID: 33173220
Free PMC article.
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW.
Beetz C, et al. Among authors: kdissa a.
Clin Genet. 2020 Apr;97(4):644-648. doi: 10.1111/cge.13690. Epub 2019 Dec 26.
Clin Genet. 2020.
PMID: 31845315
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c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Kdissa A, Brusgaard K, Ksiaa M, Golli L, Hallara O, Ousager LB, Manoubi W, Seghaier RB, Adala L, Halleb Y, Saad A, Hmila F, Gribaa M.
Kdissa A, et al.
Cancer Genet. 2020 Jan;240:45-53. doi: 10.1016/j.cancergen.2019.10.007. Epub 2019 Nov 4.
Cancer Genet. 2020.
PMID: 31739127
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Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.
Manoubi W, Mahdouani M, Hmida D, Kdissa A, Rouissi A, Turki I, Gueddiche N, Soyah N, Saad A, Bouwkamp C, Elgersma Y, Mougou-Zerelli S, Gribaa M.
Manoubi W, et al. Among authors: kdissa a.
World J Clin Cases. 2024 Jan 26;12(3):503-516. doi: 10.12998/wjcc.v12.i3.503.
World J Clin Cases. 2024.
PMID: 38322471
Free PMC article.
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