E-LIB Suche - Ergebnisse für: Tan, Zhi-Ping

1

Identification of a pathogenic SMCHD1 variant in a Chinese ..:

Yang, Jun-Lin ; Gu, Heng ; Yuan, Zhuang-Zhuang...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

A novel 7-chemokine-genes predictive signature for prognosi..:

Lin, Ming-Jie ; Tang, Xiu-Xiao ; Yao, Gao-Sheng...
Frontiers in Pharmacology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Haploinsufficiency of syncoilin leads to hypertrophic cardi..:

Fan, Liang-Liang ; Yuan, Zhuang-Zhuang ; Jiao, Zi-Jun...
Genes & Diseases. 9 (2022) 6 - p. 1412-1414 , 2022

Link: https://doi.org/10.1016/..

4

A novel nonsense PKD1L1 variant cause heterotaxy syndrome w..:

Gu, Heng ; Yuan, Zhuang-Zhuang ; Xie, Xiao-Hui..
Journal of Human Genetics. , 2022

Link: https://doi.org/10.1038/..

5

Bi-allelic BRWD1 variants cause male infertility with asthe..:

Guo, Ting ; Tu, Chao-Feng ; Yang, Dan-Hui...
Human Genetics. 140 (2021) 5 - p. 761-773 , 2021

Link: https://doi.org/10.1007/..

6

CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a ..:

Zhong, An-Ni ; Yin, Yi ; Tang, Bing-Jie...
Frontiers in Pharmacology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthr..:

Xie, Xiao-hui ; Tang, Jian-guang ; Liu, Zhong-hua...
Frontiers in Neuroscience. 15 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A V..:

Yuan, Zhuang-Zhuang ; Xie, Xiao-Hui ; Gu, Heng...
Frontiers in Cardiovascular Medicine. 8 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

Mutant CARD10 in a family with progressive immunodeficiency..:

Yang, Dan-hui ; Guo, Ting ; Yuan, Zhuang-zhuang...
Cellular & Molecular Immunology. 17 (2020) 7 - p. 782-784 , 2020

Link: https://doi.org/10.1038/..

10

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Cong..:

Yuan, Zhuang-Zhuang ; Fan, Liang-Liang ; Jiang, Zi-Chen..
Frontiers in Cardiovascular Medicine. 7 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

Whole-exome sequencing reveals doubly novel heterozygous My..:

Fan, Liang-Liang ; Chen, Ya-Qin ; Huang, Hao...
Cardiology in the Young. 28 (2018) 12 - p. 1410-1414 , 2018

Link: https://doi.org/10.1017/..

12

An effective combination of whole-exome sequencing and runs..:

Guo, Ting ; Tan, Zhi-Ping ; Chen, Hua-Mei...
Scientific Reports. 7 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..

13

19p13.2 Microdeletion including NFIX associated with overgr..:

Dong, Hai-Yun ; Zeng, Hui ; Hu, Yi-Qiao...
Molecular Cytogenetics. 9 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

14

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo..:

Zhu, Xin ; Dai, Fu-Rong ; Wang, Jian...
Gene. 571 (2015) 1 - p. 142-144 , 2015

Link: https://doi.org/10.1016/..

15

Rare copy number variations containing genes involved in RA..:

Chen, Jin-Lan ; Zhu, Xin ; Zhao, Tian-Li...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..