相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Justin A. Pater et al.
BMC MEDICAL GENETICS (2019)
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome
Gavin Dean et al.
BMJ OPEN (2017)
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina M. Sloan-Heggen et al.
HUMAN GENETICS (2016)
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
Raye L. Alford et al.
GENETICS IN MEDICINE (2014)
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Crystel Bonnet et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
William J. Kimberling et al.
GENETICS IN MEDICINE (2010)
Usher syndrome and cochlear implantation
N Loundon et al.
OTOLOGY & NEUROTOLOGY (2003)
Early intervention and language development in children who are deaf and hard of hearing
MP Moeller
PEDIATRICS (2000)