Detalhe da pesquisa
1.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med
; 15(1): 74, 2023 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723522
2.
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
Am J Med Genet A
; 146A(2): 212-8, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18076102
3.
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
Mol Genet Genomic Med
; 6(3): 357-369, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29490426
4.
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Neuromuscul Disord
; 20(4): 229-37, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20227276