Browsing by Author "Katsanis, Nicholas"
Now showing items 1-3 of 3
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand, Anna et al. | Date Issued: 2016 -
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Fonseca, Claudia Marcia Benedetto de Carvalho et al. | Date Issued: 2014 -
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
Lindstrand, Anna et al. | Date Issued: 2014