Detalles de la búsqueda
1.
CRPMKB: a knowledge base of cancer risk prediction models for systematic comparison and personalized applications.
Bioinformatics;
38(6): 1669-1676, 2022 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34927675
2.
HFBD: a biomarker knowledge database for heart failure heterogeneity and personalized applications.
Bioinformatics;
37(23): 4534-4539, 2021 12 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34164644
3.
Whole-exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees.
Am J Med Genet A;
188(4): 1214-1225, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35014173
4.
A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.
BMC Nephrol;
23(1): 227, 2022 06 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35761198
5.
5G, Big Data, and AI for Smart City and Prevention of Virus Infection.
Adv Exp Med Biol;
1368: 189-214, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35594026
6.
[Prenatal diagnosis and genetic counselling for a pedigree carrying a large fragment deletion of 13q].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(3): 334-337, 2022 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35315048
7.
[The phenotypes and genotypes of four patients with Dubin-Johnson syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(10): 1065-1069, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184084
8.
[Analysis of OTOGL gene variants in a child with moderate non-syndromic hearing loss].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
38(8): 761-764, 2021 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34365619
9.
[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
38(1): 37-41, 2021 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33423255
10.
microRNA-499a promotes the progression and chemoresistance of cervical cancer cells by targeting SOX6.
Apoptosis;
25(3-4): 205-216, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31938895
11.
[Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
37(11): 1269-1271, 2020 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33179237
12.
[Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
37(5): 559-562, 2020 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32335886
13.
[Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
37(4): 397-400, 2020 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32219821
14.
[Application of next generation sequencing for the diagnosis of congenital hearing loss].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
36(4): 301-305, 2019 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30950012
15.
[Prenatal diagnosis for two families affected with cleidocranial dysplasia due to novel RUNX2 variants].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
36(12): 1179-1182, 2019 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31813142
16.
[Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
36(10): 1028-1030, 2019 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31598953
17.
[Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
36(12): 1153-1157, 2019 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31813136
18.
[Application of next generation sequencing and Sanger sequencing in a pedigree affected with hereditary non-syndromic deafness].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
35(6): 864-867, 2018 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30512165
19.
[Mutational analysis and prenatal diagnosis of COL1A1 and COL1A2 genes in four Chinese families affected with osteogenesis imperfecta].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
34(5): 705-708, 2017 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28981938
20.
DRGKB: a knowledgebase of worldwide diagnosis-related groups' practices for comparison, evaluation and knowledge-guided application.
Database (Oxford);
20242024 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38843311