E-LIB Suche - Ergebnisse für: Lang, Yanhua

1

A novel heterozygous variant of the SALL1 gene with atypica..:

Liu, Xuyan ; Wang, Hong ; Zhang, Yiyin...
Nephrology. , 2024

Link: https://doi.org/10.1111/..

2

Numerical analysis of a nonlinear age-structured HBV model ..:

Li, Wenli ; Liu, Xing ; Lang, Yanhua
Mathematics and Computers in Simulation. 225 (2024) - p. 250-266 , 2024

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

3

Three exonic variants in the COL4A5 gene alter RNA splicing..:

Zhang, Ran ; Lang, Yanhua ; Shi, Xiaomeng...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

Link: https://doi.org/10.1002/..

4

Four novel variants identified in primary hyperoxaluria and..:

Xin, Qing ; Dong, Yameng ; Guo, Wencong...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

5

Minigene splicing assays reveal new insights into exonic va..:

Shi, Xiaomeng ; Wang, Hong ; Zhang, Ruixiao...
Molecular Genetics & Genomic Medicine. 11 (2023) 4 - p. , 2023

Link: https://doi.org/10.1002/..

6

Identification of two novel variants of BCS1L gene in a pat..:

Guo, Wencong ; Shao, Yingfei ; Lang, Yanhua...
Nephrology. 27 (2022) 10 - p. 810-814 , 2022

Link: https://doi.org/10.1111/..

7

Genotypic and phenotypic analysis in 51 Chinese patients wi..:

Guo, Wencong ; Song, Qijing ; Zhang, Ruixiao...
Clinical Genetics. 100 (2021) 4 - p. 440-446 , 2021

Link: https://doi.org/10.1111/..

8

Identification of seven exonic variants in theSLC4A1,ATP6V1..:

Zhang, Ruixiao ; Chen, Zeqing ; Song, Qijing...
Human Mutation. 42 (2021) 9 - p. 1153-1164 , 2021

Link: https://doi.org/10.1002/..

9

Sudden onset of nephrotic syndrome in an asymptomatic Fabry..:

Zhang, Ruixiao ; Chen, Zeqing ; Lang, Yanhua...
Renal Failure. 42 (2020) 1 - p. 958-965 , 2020

Link: https://doi.org/10.1080/..

10

Eight novel KCNJ1 variants and parathyroid hormone overacti..:

Zuo, Jianxin ; Guo, Wencong ; Wang, Shujuan...
Clinica Chimica Acta. 511 (2020) - p. 248-254 , 2020

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

11

Thirteen novel CLCNKB variants and genotype/phenotype assoc..:

Han, Yue ; Cheng, Hai ; Shao, Shihong...
Endocrine. 68 (2019) 1 - p. 192-202 , 2019

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

12

Eleven novel SLC12A1 variants and an exonic mutation cause ..:

Han, Yue ; Zhao, Xiangzhong ; Wang, Sai...
Endocrine. 64 (2019) 3 - p. 708-718 , 2019

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

13

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinos..:

Lu, Jingru ; Zhao, Xiangzhong ; Paiardini, Alessandro...
BMC Nephrology. 19 (2018) 1 - p. , 2018

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

14

Identification of a novel TSC2 c.3610G > A, p.G1204R mutati..:

Zhang, Ruixiao ; Wang, Jianhong ; Wang, Qing...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

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

15

A novel mutation in exon 9 of Cullin 3 gene contributes to ..:

Shao, Leping ; Cui, Li ; Lu, Jingru...
FEBS Open Bio. 8 (2018) 3 - p. 461-469 , 2018

Link: https://doi.org/10.1002/..