Detalhe da pesquisa
1.
[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(1): 45-8, 2013 Feb.
Artigo
em Chinês
| MEDLINE | ID: mdl-23450478
2.
[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(6): 625-9, 2011 Dec.
Artigo
em Chinês
| MEDLINE | ID: mdl-22161092
3.
Cell-free DNA test for pathogenic copy number variations: A retrospective study.
Taiwan J Obstet Gynecol
; 60(6): 1066-1071, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34794739
4.
Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.
Taiwan J Obstet Gynecol
; 60(2): 232-237, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678321
5.
[Mutation analysis and prenatal diagnosis of sporadic DMD/BMD families].
Zhonghua Yi Xue Za Zhi
; 89(25): 1753-6, 2009 Jul 07.
Artigo
em Chinês
| MEDLINE | ID: mdl-19862979
6.
The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly.
Taiwan J Obstet Gynecol
; 58(2): 251-254, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910148
7.
[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 25(4): 421-3, 2008 Aug.
Artigo
em Chinês
| MEDLINE | ID: mdl-18683141
8.
[Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].
Zhonghua Yi Xue Za Zhi
; 88(46): 3246-9, 2008 Dec 16.
Artigo
em Chinês
| MEDLINE | ID: mdl-19159546
9.
[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
Zhonghua Yi Xue Za Zhi
; 87(16): 1123-5, 2007 Apr 24.
Artigo
em Chinês
| MEDLINE | ID: mdl-17672996
10.
[A novel P gene mutation in a Chinese family with oculocutaneous albinism].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(6): 614-7, 2006 Dec.
Artigo
em Chinês
| MEDLINE | ID: mdl-17160937
11.
[Prenatal gene diagnosis of oculocutaneous albinism type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(3): 280-2, 2006 Jun.
Artigo
em Chinês
| MEDLINE | ID: mdl-16767664
12.
[A new form of Oculocutaneous albinism, OCA4].
Yi Chuan
; 28(9): 1149-52, 2006 Sep.
Artigo
em Chinês
| MEDLINE | ID: mdl-16963427
13.
[Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].
Yi Chuan
; 27(6): 984-8, 2005 Nov.
Artigo
em Chinês
| MEDLINE | ID: mdl-16378950
14.
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
Chin Med J (Engl)
; 124(19): 3054-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22040554