Detalhe da pesquisa
1.
Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement.
Am J Physiol Renal Physiol;
305(9): F1374-81, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24026181
2.
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
J Hum Genet;
56(1): 34-40, 2011 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21048783
3.
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Pediatr Res;
64(3): 228-33, 2008 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18414141
4.
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
J Med Genet;
44(3): e69, 2007 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17361008
5.
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
Am J Med Genet B Neuropsychiatr Genet;
147B(4): 479-84, 2008 Jun 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18081026
6.
The GSTP1 gene is a susceptibility gene for childhood asthma and the GSTM1 gene is a modifier of the GSTP1 gene.
Int Arch Allergy Immunol;
144(4): 275-86, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17643058
7.
[Gene amplification method].
Nihon Rinsho;
63 Suppl 12: 152-5, 2005 Dec.
Artigo
em Japonês
| MEDLINE
| ID: mdl-16416786
8.
Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study.
J Child Neurol;
24(7): 868-73, 2009 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19264735
9.
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Mol Genet Metab;
91(4): 384-9, 2007 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17433748
10.
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
Ann Neurol;
59(5): 862-7, 2006 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16634033
11.
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
J Hum Genet;
51(5): 455-460, 2006.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16596322
12.
Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma.
Hum Genet;
115(4): 295-301, 2004 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15278436
13.
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Mol Genet Metab;
81(4): 343-6, 2004 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15059622
14.
Linkage and association of childhood asthma with the chromosome 12 genes.
J Hum Genet;
49(3): 115-122, 2004.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14767694