Detalles de la búsqueda
1.
[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].
Zhonghua Nan Ke Xue
; 26(12): 1105-1111, 2020 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-34898086
2.
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.
Clin Chem Lab Med
; 55(3): 358-367, 2017 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27754957
3.
A Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family.
Clin Lab
; 63(9): 1501-1506, 2017 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28879703
4.
[Two novel TSC2 frameshift mutations in tuberous sclerosis complex].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(3): 308-312, 2017 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-28302202
5.
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(10): 1013-1018, 2016 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-27751223
6.
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
BMC Musculoskelet Disord
; 16: 11, 2015 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25888055
7.
[Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(12): 1267-72, 2015 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-26695662
8.
[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(4): 443-6, 2013 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-23926013
9.
[Application of DHPLC screening TGFBR-3 gene in Chinese women with idiopathic premature ovarian failure].
Zhonghua Fu Chan Ke Za Zhi
; 48(6): 432-6, 2013 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-24103122
10.
[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus].
Zhonghua Nan Ke Xue
; 19(7): 642-6, 2013 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-23926684
11.
Emodin affects ERCC1 expression in breast cancer cells.
J Transl Med
; 10 Suppl 1: S7, 2012 Sep 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-23046742
12.
FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure.
Reprod Biol Endocrinol
; 9: 158, 2011 Dec 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-22177572
13.
Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure.
Reprod Biomed Online
; 23(6): 697-703, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22036907
14.
[A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(2): 176-9, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21462130
15.
[Clinical significance of large-scale screening of A1555G mutation of mitochondria DNA for neonates].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(4): 414-6, 2011 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-21811982
16.
[Analysis of fetal chromosomal karyotype and etiology in 252 cases of early spontaneous abortion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 575-8, 2011 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-21983739
17.
[Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(6): 616-9, 2011 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-22161090
18.
[Karyotype analysis of chorionic villi from pregnant women with missed abortion using multiplex ligation-dependent probe amplification].
Zhonghua Fu Chan Ke Za Zhi
; 44(7): 509-13, 2009 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-19957550
19.
Maxillary Metastasis of Esophageal Cancer: Report of the First Case and Literature Review.
Comb Chem High Throughput Screen
; 21(10): 801-805, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30605052
20.
[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].
Zhonghua Er Ke Za Zhi
; 51(12): 934-7, 2013 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-24495766