Publications
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Filters: Author is Maroofian, Reza and Keyword is Syndrome [Clear All Filters]
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 ;31(8):905-917.
. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
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