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Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locusGRIGGS, Bradley L; LADD, Sydney; DECKER, Amy et al.European journal of human genetics. 2009, Vol 17, Num 1, pp 30-36, issn 1018-4813, 7 p.Article

The neuropsychological phenotype of velocardiofacial syndrome (VCFS) : Relationship to psychopathologyLAJINESS-O'NEILL, Renée; BEAULIEU, Isabelle; ASAMOAH, Alexander et al.Archives of clinical neuropsychology. 2006, Vol 21, Num 2, pp 175-184, issn 0887-6177, 10 p.Article

Child with de novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delayASAMOAH, Alexander; DECKER, Amy B; WIKTOR, Anne et al.American journal of medical genetics. 2003, Vol 118A, Num 1, pp 82-85, issn 0148-7299, 4 p.Article

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayGIRIRAJAN, Santhosh; ROSENFELD, Jill A; MEFFORD, Heather C et al.Nature genetics. 2010, Vol 42, Num 3, pp 203-209, issn 1061-4036, 7 p.Article

Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomaliesASAMOAH, Alexander; NWANKWO, Martin; KUMAR, Savitri P et al.American journal of medical genetics. 2004, Vol 127A, Num 1, pp 65-68, issn 0148-7299, 4 p.Article

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number VariantsGIRIRAJAN, Santhosh; ROSENFELD, Jill A; NEZARATI, Marjan M et al.The New England journal of medicine. 2012, Vol 367, Num 14, pp 1321-1331, issn 0028-4793, 11 p.Article

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionCOPPINGER, Justine; MCDONALD-MCGINN, Donna; FELDMAN, Heidi et al.Human molecular genetics (Print). 2009, Vol 18, Num 8, pp 1377-1383, issn 0964-6906, 7 p.Article

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2BALLIF, Blake C; HORNOR, Sara A; GRAHAM, John M et al.Nature genetics. 2007, Vol 39, Num 9, pp 1071-1073, issn 1061-4036, 3 p.Article

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