Detalhe da pesquisa
1.
A protocol for the identification and validation of novel genetic causes of kidney disease.
BMC Nephrol
; 16: 152, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26374634
2.
Atypical HUS associated with severe, unexpected antibody-mediated rejection post kidney transplant.
Nephrology (Carlton)
; 19 Suppl 1: 22-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24460647
3.
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
Genet Med
; 11(12): 843-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20010362
4.
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
5.
DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method.
Biotechniques
; 46(4): 309-11, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19450238
6.
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
Am J Med Genet A
; 120A(2): 157-68, 2003 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12833394
7.
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Proc Natl Acad Sci U S A
; 101(21): 8090-5, 2004 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-15141091