Detalhe da pesquisa
1.
[Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China]. / çèå°åºéä¼ ä»£è°¢ç ç¾ç è°±åè´ç åºå åæ.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(1): 67-71, 2024 Jan 15.
Artigo
em Chinês
| MEDLINE | ID: mdl-38269462
2.
Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.
J Clin Ultrasound
; 49(8): 838-840, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991347
3.
Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.
Front Neurol
; 15: 1357476, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38654739
4.
[Value of oral mucosa cast-off cells as samples in fluorescent in situ hybridization for the diagnosis of Down's syndrome].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(3): 202-4, 2012 Mar.
Artigo
em Chinês
| MEDLINE | ID: mdl-22433409
5.
The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia.
Front Genet
; 13: 854712, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35646099
6.
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 490-2, 2011 Oct.
Artigo
em Chinês
| MEDLINE | ID: mdl-21983718
7.
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(4): 419-22, 2009 Aug.
Artigo
em Chinês
| MEDLINE | ID: mdl-20017307