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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
Download from www.nature.comMutations in NOTCH2 in families with Hajdu-Cheney Syndrome
UploadNext-generation sequencing in 248 families with X-linked intellectual disability
UploadComplex genetics of radial ray deficiencies: Screening of a cohort of 50 patients
UploadIdentification of 15 novel mutations in Sotos syndrome
UploadMassively parallel sequencing in >250 families with X-linked intellectual disability
UploadNext-generation sequencing in >240 families with X-linked intellectual disability
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