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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.
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.
Hum Genome Var
; 2: 15045, 2015.
Article
in English
| MEDLINE | ID: mdl-27081551
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