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1.
[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1077-1080, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729747
2.
[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(8): 807-810, 2020 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32761583
3.
[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 713-716, 2020 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32619248
4.
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
BMC Med Genet
; 19(1): 198, 2018 11 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-30424739
5.
[Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 224-227, 2018 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29652997
6.
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 540-543, 2018 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30098252
7.
[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(2): 216-219, 2017 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28397222
8.
[A novel mutation of GLI3 gene underlying synpolydactyly in a family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(4): 490-493, 2017 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28777844
9.
[A novel pathogenic mutation of CRYGD gene in a congenital cataract family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(4): 515-8, 2016 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-27455011
10.
[Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(6): 778-781, 2016 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-27984604
11.
[Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(5): 594-7, 2016 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-27577201
12.
Flexible Strain Sensors Based on an Interlayer Synergistic Effect of Nanomaterials for Continuous and Noninvasive Blood Pressure Monitoring.
ACS Appl Mater Interfaces
; 16(20): 26943-26953, 2024 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38718354
13.
OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.
BMC Med Genomics
; 16(1): 285, 2023 11 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37953234
14.
Apolipoprotein E epsilon 2 allele and low serum cholesterol as risk factors for gastric cancer in a Chinese Han population.
Sci Rep
; 6: 19930, 2016 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-26817942
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