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American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
The New England Journal of Medicine|October 27, 2020
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory DiseaseDavid B Beck, Marcela A Ferrada, Keith A Sikora, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
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