Publications
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Author Title [ Year] Filters: Keyword is Syndrome and Author is Zaki, Maha S [Clear All Filters]
Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet 26, 330-339 (2018).
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (2016).
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).