Detalhe da pesquisa
1.
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
BMC Med Genet
; 18(1): 66, 2017 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595573
2.
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
J Hum Genet
; 60(5): 259-65, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716912
3.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet A
; 161A(6): 1221-37, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23637025
4.
A patient with early onset Huntington disease and severe cerebellar atrophy.
Am J Med Genet A
; 149A(4): 598-601, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19253382
5.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Nat Genet
; 44(4): 376-8, 2012 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426308
6.
Spatial accessibility to pediatric services.
J Community Health
; 33(6): 444-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18581216