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1.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Article
in English
| MEDLINE | ID: mdl-22970919
2.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23495017
3.
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Eur J Med Genet
; 58(10): 503-8, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26327614
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