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Birth Defects Research|August 9, 2024
Population-based prevalence of congenital defects in a routine sentinel site-based surveillance system in the Western Cape, South AfricaEmma Kalk, Alexa Heekes, Diane Lavies, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|January 30, 2016
Implications of direct-to-consumer whole-exome sequencing in South AfricaZané Lombard, Fiona Baine, Amanda Krause, et al.
Orphanet Journal of Rare Diseases|January 14, 2024
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD studyMichelle Bisschoff, Izelle Smuts, Marli Dercksen, et al.
American Journal of Human Genetics|April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseAmy G Jones, Matilde Aquilino, Rory J Tinker, et al.
Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
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