Browsing by Author "Lupski, James R."
Now showing items 1-9 of 9
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Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
Carvalho, Claudia Márcia Benedetto de et al. | Date Issued: 2015 -
Altered neuronal network and rescue in a human MECP2 duplication model
Nageshappa, Savitha et al. | Date Issued: 2016 -
Chimeric transcripts resulting from complex duplications in chromosome Xq28
Zuccherato, Luciana Wernec et al. | Date Issued: 2016 -
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
Beck, Christine R. et al. | Date Issued: 2015 -
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand, Anna et al. | Date Issued: 2016 -
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
White, Janson et al. | Date Issued: 2015 -
Mechanisms underlying structural variant formation in genomic disorders
Carvalho, Claudia Márcia Benedetto de et al. | Date Issued: 2016 -
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
Lindstrand, Anna et al. | Date Issued: 2014 -
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Hijazi, Hadia et al. | Date Issued: 2020