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[Bardet Biedl syndrome: a case report].
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Archivos Argentinos De Pediatria, 2022
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.
Chen JH et al.
Molecular Genetics & Genomic Medicine, 2017
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
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