Publications
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Author [ Title] Year Filters: Author is Issa, Mahmoud Y and Keyword is Child, Preschool [Clear All Filters]
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. Am J Hum Genet 101, 441-450 (2017).
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics 13, 68 (2020).
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).