Detalhe da pesquisa
1.
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
PLoS Genet
; 6(3): e1000874, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20300641
2.
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Nat Genet
; 31(4): 410-4, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12118250
3.
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
Stroke
; 42(2): e14-7, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21183743
4.
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Ann Neurol
; 63(4): 473-81, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18306232
5.
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
J Mol Med (Berl)
; 85(2): 163-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17031679
6.
Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.
PLoS One
; 6(11): e28240, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140562
7.
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Nat Genet
; 43(12): 1189-92, 2011 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22101682
8.
A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.
J Hypertens
; 27(5): 983-90, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373111
9.
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Nephrol Dial Transplant
; 20(5): 909-14, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15741201
10.
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
J Am Soc Nephrol
; 14(6): 1519-22, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12761252