Browsing by Author "Fonseca, Claudia Marcia Benedetto de Carvalho"
Now showing items 1-4 of 4
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
Soler-Alfonso, Claudia et al. | Date Issued: 2014 -
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 -
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
Fonseca, Claudia Marcia Benedetto de Carvalho et al. | Date Issued: 2014