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Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
VaRank: a simple and powerful tool for ranking genetic variants
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

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