Detalhe da pesquisa
1.
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(11): 1150-1154, 2017 Nov.
Artigo
Chinês
| MEDLINE | ID: mdl-29132460
2.
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(10): 1019-1025, 2016 Oct.
Artigo
Chinês
| MEDLINE | ID: mdl-27751224
3.
[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(12): 1282-1285, 2016 Dec.
Artigo
Chinês
| MEDLINE | ID: mdl-27974123
4.
[Pancytopenia and metabolic decompensation in a neonate].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(11): 1150-1153, 2016 Nov.
Artigo
Chinês
| MEDLINE | ID: mdl-27817783
5.
[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(11): 1136-1140, 2016 Nov.
Artigo
Chinês
| MEDLINE | ID: mdl-27817780
6.
Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.
BMC Evol Biol
; 13: 63, 2013 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-23497175
7.
A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.
Gene
; 524(2): 377-80, 2013 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-23624125