Peter Raffalli
Overview
Explore the profile of Peter Raffalli including associated specialties, affiliations and a list of published articles.
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Articles
3
Citations
240
Followers
0
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Related Specialties
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Recent Articles
1.
An Y, Amr S, Torres A, Weissman L, Raffalli P, Cox G, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2013 Sep;
162B(8):832-40.
PMID: 24019301
20p13 telomeric/subtelomeric deletions are clinically significant but are currently under-investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated....
2.
Shen Y, Dies K, Holm I, Bridgemohan C, Sobeih M, Caronna E, et al.
Pediatrics
. 2010 Mar;
125(4):e727-35.
PMID: 20231187
Background: Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and...
3.
Berg J, Brunetti-Pierri N, Peters S, Kang S, Fong C, Salamone J, et al.
Genet Med
. 2007 Aug;
9(7):427-41.
PMID: 17666889
Purpose: Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic homologous recombination between low copy repeats flanking this critical...