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Filters: Keyword is Mutation and Author is Posey, Jennifer E [Clear All Filters]
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 ;137(9):689-703..
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 ;9(1):73..
POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3..