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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
VaRank: a simple and powerful tool for ranking genetic variants
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
DPY19L2 deletion as a major cause of globozoospermia
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations