Detalhe da pesquisa
1.
Molecular Subtyping and Prognostic Assessment Based on Tumor Mutation Burden in Patients with Lung Adenocarcinomas.
Int J Mol Sci
; 20(17)2019 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31480292
2.
46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China.
Front Genet
; 10: 1350, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32153624
3.
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.
PLoS One
; 13(4): e0185237, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29641573
4.
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Oncotarget
; 8(21): 35176-35183, 2017 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28456785
5.
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
Oncotarget
; 7(48): 78363-78371, 2016 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852057
6.
Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene.
Indian J Dermatol Venereol Leprol
; 86(1): 81-84, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755479
7.
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
J Zhejiang Univ Sci B
; 15(8): 727-34, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091991