Detalhe da pesquisa
1.
Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia.
J Med Genet
; 55(10): 701-704, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331981
2.
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
3.
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.
J Hum Genet
; 62(5): 561-567, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28179634
4.
Serous tubal intraepithelial carcinoma in a Japanese woman with a deleterious BRCA1 mutation.
Jpn J Clin Oncol
; 44(6): 597-601, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24719479
5.
Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.
J Hum Genet
; 57(12): 807-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992774
6.
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
7.
Evaluation of analytical factors associated with targeted MEFV gene sequencing using long-range PCR/massively parallel sequencing of whole blood DNA for molecular diagnosis of Familial Mediterranean fever.
Clin Chim Acta
; 495: 562-569, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173732
8.
[Role of the hospital laboratory and medical technologists in genetic medical services].
Rinsho Byori
; Suppl 144: 210-4, 2009 Aug.
Artigo
em Japonês
| MEDLINE | ID: mdl-22685819
9.
High-resolution melting analyses for gene scanning of APC, MLH1, MSH2, and MSH6 associated with hereditary colorectal cancer.
Genet Test Mol Biomarkers
; 16(5): 406-11, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22283331