Detalhe da pesquisa
1.
[Analysis of IVD gene variants in four children with isovalerate acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1339-1343, 2022 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36453955
2.
[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 21-24, 2020 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31922589
3.
[Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type â ].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(9): 882-885, 2019 Sep 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31515781
4.
[Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 805-808, 2019 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31400133
5.
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(11): 1067-1072, 2019 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31703127
6.
[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 690-693, 2019 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31302912
7.
[Clinical and genetic analysis of a child with Noonan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(6): 588-591, 2019 Jun 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31055812
8.
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(12): 1163-1166, 2019 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-31813138
9.
[Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 467-470, 2018 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30098235
10.
[Screening indices and their cut-off values for full-term neonates carrying ß-thalassemia gene].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(12): 990-993, 2018 Dec.
Artigo
em Zh
| MEDLINE | ID: mdl-30572986
11.
[Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(1): 52-55, 2018 Jan.
Artigo
em Zh
| MEDLINE | ID: mdl-29335083
12.
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(11): 1150-1154, 2017 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-29132460
13.
[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
em Zh
| MEDLINE | ID: mdl-27751224
14.
[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
em Zh
| MEDLINE | ID: mdl-27974123
15.
[Pancytopenia and metabolic decompensation in a neonate].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(11): 1150-1153, 2016 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-27817783
16.
[Molecular diagnosis for a patient with Kennedy disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 31(6): 754-6, 2014 Dec.
Artigo
em Zh
| MEDLINE | ID: mdl-25449082
17.
[Analysis of SCA3/MJD3 gene mutation and genetic polymorphism in a guangxi family with spinocerebellar ataxia 3].
Yi Chuan
; 35(11): 1300-6, 2013 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-24579313
18.
The Effects of Dietary Protein Level on the Growth Performance, Body Composition, Intestinal Digestion and Microbiota of Litopenaeus vannamei Fed Chlorella sorokiniana as the Main Protein Source.
Animals (Basel)
; 13(18)2023 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37760280
19.
A Systematic Review of Intermittent Theta Burst Stimulation for Neurocognitive Dysfunction in Older Adults with Schizophrenia.
J Pers Med
; 13(3)2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983667
20.
Cutaneomucosal venous malformations are linked to the TIE2 mutation in a large Chinese family.
Exp Dermatol
; 21(6): 456-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22621187