Detalles de la búsqueda
1.
[Expert consensus on the genetic diagnosis for Dystrophinopathies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 909-914, 2023 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37532487
2.
[Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 966-972, 2023 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37532496
3.
[Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 457-463, 2022 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35598257
4.
[Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 194-197, 2022 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35076918
5.
[Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 64-67, 2022 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34964970
6.
[Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1261-1264, 2020 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33179235
7.
[Genetic diagnosis of a child with Smith-Magenis syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 724-726, 2019 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31302921
8.
[Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(5): 491-494, 2019 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31030441
9.
[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(10): 1022-1024, 2019 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31598951
10.
[Analysis of WAS gene mutation in a Chinese family affected with Wiskott-Aldrich syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 207-209, 2018 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29652993
11.
[Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(3): 418-421, 2018 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29896745
12.
[Prenatal diagnosis and genetic analysis of a fetus with 2p13.3-p12 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(5): 711-714, 2018 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30298502
13.
[Genetic diagnosis of a child with aortic stenosis and thumb aplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 531-534, 2018 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30098250
14.
[Genetic analysis of a child with cleidocranial dysplasia and 6q21-q22.31 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 253-256, 2018 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29653004
15.
[Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(1): 91-95, 2018 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29419870
16.
[Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(6): 849-852, 2017 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29188614
17.
[Phenotypic and genetic analysis of a boy with partial trisomy of 1q].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(3): 398-401, 2017 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28604964
18.
[Prenatal diagnosis and genetic analysis of a fetus with 6q27 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 718-721, 2017 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28981941
19.
[Genetic and prenatal diagnosis for a haemophilia A family with two novel mutations of F8 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(4): 486-489, 2017 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28777843
20.
Integrated miRNA and mRNA expression profiling in fetal hippocampus with Down syndrome.
J Biomed Sci
; 23(1): 48, 2016 Jun 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27266699