Suchergebnisse - "YUAN HUIJUN"

PubPharm (13)

1

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Shen, J. | Oza, A. | Del Castillo, I. | +49

2

A novel technique for simultaneous multi-gene mutation screening in 225 patients with nonsyndromic hearing loss

enthalten in: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery | 2016

von Zhang, D. | Duan, H. | Lin, P. | +9

3

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

enthalten in: PloS one | 2016

von Gao, Z. | Lu, Y. | Ke, J. | +10

4

A new method for simultaneous multi-gene mutation screening in 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region

enthalten in: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery | 2015

von Zhang, D. | Duan, H. | Yuan, H. | +1

5

A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss

enthalten in: Genomics | 2014

von Du, W. | Cheng, J. | Ding, H. | +3

6

Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation

enthalten in: Mitochondrion | 2009

von Zhu, Y. | Li, Q. | Chen, Z. | +7

7

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

enthalten in: Journal of translational medicine | 2009

von Yuan, Y. | You, Y. | Huang, D. | +8

8

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment

enthalten in: Journal of translational medicine | 2009

von Dai, P. | Yu, F. | Han, B. | +36

9

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

enthalten in: Human genetics | 2009

von Liu, X. | Yuan, Y. | Yan, D. | +13

10

A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma

enthalten in: American journal of medical genetics. Part A | 2009

von Yuan, Y. | Huang, D. | Yu, F. | +5