Detalles de la búsqueda
1.
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
J Hum Genet
; 58(2): 67-72, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23235335
2.
[Clinical study on 48 cases with complete 17α-hydroxylase deficiency].
Zhonghua Fu Chan Ke Za Zhi
; 47(7): 518-21, 2012 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-23141163
3.
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(2): 147-51, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21462124
4.
[Establishment of multiple quantitative fluorescent polymerase chain reaction assay and its application in rapid prenatal diagnosis of common chromosome aneuploidies].
Zhonghua Fu Chan Ke Za Zhi
; 45(7): 481-7, 2010 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-21029597
5.
A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.
Front Neurol
; 11: 572006, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33101180
6.
[An analysis of mutations causing Gaucher disease in Chinese population].
Zhonghua Yi Xue Za Zhi
; 89(48): 3397-400, 2009 Dec 29.
Artículo
en Zh
| MEDLINE | ID: mdl-20223112
7.
[The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(4): 382-6, 2007 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-17680525
8.
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Zhonghua Er Ke Za Zhi
; 51(11): 836-41, 2013 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-24484558
9.
[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
Zhonghua Er Ke Za Zhi
; 49(4): 306-10, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21624210
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