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Molecular Genetics & Genomic Medicine|August 18, 2023
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosisFatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, et al.
American Journal of Human Genetics|September 23, 2022
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humansMargot J Wyrwoll, Channah M Gaasbeek, Ieva Golubickaite, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
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