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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadBroadening the phenotypic spectrum and physiological insights related toEIF2S3variants
Download from onlinelibrary.wiley.comA second case of Okamoto syndrome caused by HNRNPK mutation
Download from api.wiley.comTwo novel GJA1 variants in oculodentodigital dysplasia
Download from onlinelibrary.wiley.comAgenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
Download from onlinelibrary.wiley.comHUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Download from www.nature.comFOXP1 -related intellectual disability syndrome: a recognisable entity
UploadNovelLMNAmutations cause an aggressive atypical neonatal progeria without progerin accumulation
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