Detalhe da pesquisa
1.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
2.
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Am J Med Genet A
; 152A(5): 1310-3, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425842
3.
Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.
Am J Med Genet A
; 149A(4): 793-7, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19248177
4.
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.
Mol Cytogenet
; 3: 3, 2010 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-20167067