首页> 美国卫生研究院文献>Journal of Medical Genetics >SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

【2h】

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

机译：SLC26A4 / PDS基因型与表型在听力损失与前庭导水管（EVA）扩大之间的相关性：证据表明Pendred综合征和非综合征性EVA是不同的临床和遗传实体

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

著录项
相似文献
相关主题

著录项

期刊名称 Journal of Medical Genetics
作者
S Pryor; A Madeo; J Reynolds; N Sarlis; K Arnos; W Nance; Y Yang; C Zalewski; C Brewer; J Butman; A Griffith;
展开▼
作者单位

展开▼
年(卷),期 2005(42),2
年度 2005
页码 159–165
总页数 7
原文格式 PDF
正文语种
中图分类遗传学;
关键词

相似文献

外文文献
中文文献
专利

1. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? [J] . Choi BY, Stewart AK, Madeo AC, Human mutation . 2009,第4期

机译：功能低下的SLC26A4变体与非综合征性听力损失和前庭导水管增大相关：基因型与表型的相关性还是巧合的多态性？
2. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. [J] . Tsukamoto K, Suzuki H, Harada D, European journal of human genetics: EJHG . 2003,第12期

机译：Pendred综合征中PDS（SLC26A4）突变的分布和频率以及与前庭导水管增大相关的非综合征性听力损失：日语中独特的突变谱。
3. The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct [J] . Mey Kristianna, Bille Michael, Rasmussen Stig Hebbelstrup Rye, Otology and neurotology: official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology . 2019,第3期

机译：PENDRED综合征和非综合征扩大前庭渡槽中听力损失的自然史
4. Summary of evidence of risk for noise-induced hearing loss from recreational music exposures: prevalence estimates and potential severity of threshold shift and other hearing disorders [C] . B.J. Fligor International Congress on Noise as a Public Health Problem . 2011

机译：噪声引起的娱乐呼吸损失风险危险概述：普遍估计和阈值转移和其他听力障碍的潜在严重程度
5. Evaluation of genetic counselors' knowledge and comfort level counseling for the genetics of hearing loss. [D] . Campbell, Colleen-Ann. 2003

机译：评估遗传咨询师的知识以及对听力损失遗传学的舒适度咨询。
6. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? [O] . Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo, -1

机译：Hypo-functional SLC26A4变体与非合成症听力损失和前庭途径的扩大相关：基因型 - 表型相关性或巧合多态性？
7. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities [O] . Pryor, S, Madeo, A, Reynolds, J, 2005

机译：SLC26A4 / PDS基因型与表型在听力损失与前庭导水管（EVA）扩大之间的相关性：证据表明Pendred综合征和非综合征性EVA是不同的临床和遗传实体

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

著录项

相似文献

相关主题

期刊订阅