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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.
UploadA de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Download from www.nature.comCompound heterozygousPKHD1variants cause a wide spectrum of ductal plate malformations
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
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