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American Journal of Human Genetics|August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyQuentin Thomas, Marialetizia Motta, Thierry Gautier, et al.Plos Medicine|March 2, 2018
The epidemiology of adolescents living with perinatally acquired HIV: A cross-region global cohort analysis, Amy L Slogrove, Michael Schomaker, et al.Journal of the International AIDS Society|March 7, 2022
Growth and CD4 patterns of adolescents living with perinatally acquired HIV worldwide, a CIPHER cohort collaboration analysis, Julie Jesson, Siobhan Crichton, et al.Brain : a Journal of Neurology|November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.Pageof 16