Detalhe da pesquisa
1.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Am J Med Genet A
; 194(4): e63479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987117
2.
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Hum Mutat
; 29(9): 1083-90, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18683213
3.
Revised spectrum of mutations in sarcoglycanopathies.
Eur J Hum Genet
; 16(7): 793-803, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285821
4.
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
Hum Mutat
; 28(2): 183-95, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17041906
5.
FXTAS: new insights and the need for revised diagnostic criteria.
Neurology
; 79(18): 1898-907, 2012 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23077007