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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Download from onlinelibrary.wiley.comAutosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Upload6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
Download from dx.doi.orgClinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
UploadDelineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
Download from www.hal.inserm.fr12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
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