Detalhe da pesquisa
1.
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Eur J Neurol
; 27(1): 51-61, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31407473
2.
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
Clin Genet
; 93(4): 913-918, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136277
3.
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Clin Genet
; 93(2): 255-265, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653766
4.
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
Mol Psychiatry
; 18(1): 122-32, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105623
5.
Adolescent growth: genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013.
Pediatr Endocrinol Rev
; 11(3): 341-53, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24716402
6.
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
Nat Genet
; 5(4): 376-80, 1993 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-8298646
7.
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Nat Genet
; 25(4): 462-6, 2000 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10932196
8.
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Nat Genet
; 2(2): 139-43, 1992 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-1303264
9.
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.
Nat Genet
; 13(4): 458-60, 1996 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-8696341
10.
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Nat Genet
; 24(3): 283-6, 2000 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10700184
11.
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Nat Genet
; 19(3): 260-3, 1998 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9662399
12.
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Nat Genet
; 29(1): 66-9, 2001 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11528394
13.
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Nat Genet
; 13(1): 35-42, 1996 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8673101
14.
Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
Nat Genet
; 25(4): 444-7, 2000 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10932192
15.
Replication of restless legs syndrome loci in three European populations.
J Med Genet
; 46(5): 315-8, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19279021
16.
INSIG2 promoter variant, obesity markers and lipid parameters - No association in a large Slavonic Caucasian population sample.
Folia Biol (Praha)
; 56(3): 131-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20653998
17.
MitoP2: the mitochondrial proteome database--now including mouse data.
Nucleic Acids Res
; 34(Database issue): D705-11, 2006 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16381964
18.
Informatics and medicine--from molecules to populations.
Methods Inf Med
; 47(4): 283-95, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18690362
19.
20.
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
J Clin Invest
; 93(4): 1852-9, 1994 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-7512993