Detalhe da pesquisa
1.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
2.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Brain
; 135(Pt 11): 3392-403, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23107649
3.
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
Eur J Hum Genet
; 13(1): 124-6, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15367913
4.
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Eur J Hum Genet
; 13(10): 1113-20, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16015284
5.
Variation in the calpain-10 gene affects blood glucose levels in the British population.
Diabetes
; 51(1): 247-50, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11756349
6.
Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes.
Diabetes
; 52(1): 145-8, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12502505
7.
Haplotype combinations of calpain 10 gene polymorphisms associate with increased risk of impaired glucose tolerance and type 2 diabetes in South Indians.
Diabetes
; 51(5): 1622-8, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11978665
8.
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.
Diabetes
; 52(3): 872-81, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12606533
9.
Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.
J Clin Endocrinol Metab
; 87(6): 2606-10, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12050223
10.
NTNG1 mutations are a rare cause of Rett syndrome.
Am J Med Genet A
; 140(7): 691-4, 2006 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16502428
11.
Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses.
Mol Genet Metab
; 89(1-2): 174-84, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16837224
12.
Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus.
Am J Hum Genet
; 71(3): 554-64, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12148091