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1.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33173220
2.
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
Clin Genet
; 97(4): 644-648, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31845315
3.
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.
World J Clin Cases
; 12(3): 503-516, 2024 Jan 26.
Article
in English
| MEDLINE | ID: mdl-38322471
4.
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Cancer Genet
; 240: 45-53, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31739127
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