コーパス検索結果 (1語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 exposure or any other clinical features (non-syndromic hearing loss).
2 trophy, mental retardation, seizures) to non-syndromic hearing loss.
3 e the major cause of autosomal recessive non-syndromic hearing loss.
4 multiple mitochondrial dysfunctions, and non-syndromic hearing loss.
5 sociated with aminoglycoside-induced and non-syndromic hearing loss.
6 iously shown to cause both syndromic and non-syndromic hearing loss.
8 role in the phenotypic manifestation of non-syndromic hearing loss and aminoglycoside toxicity assoc
9 ing dermatological disorders associated with syndromic hearing loss and cover a wide range of severit
10 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aqueducts
11 f inner-ear architecture associated with non-syndromic hearing loss, and suggest that tectorial membr
12 ecessive forms of nonsyndromic hearing loss, syndromic hearing loss, and, in some cases, even multipl
13 e DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an ap
14 this gene also cause autosomal dominant non-syndromic hearing loss as a dominant-negative consequenc
15 Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome
16 hancers in which mutations could lead to non-syndromic hearing loss, craniofacial defects or limb mal
18 s lead to early-onset autosomal dominant non-syndromic hearing loss, familial thoracic aortic aneurys
26 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high
28 congenital heart disease p.(Arg169His), non-syndromic hearing loss p.(Glu465Ala) and congenital hear
29 tor properties have been associated with non-syndromic hearing loss, suggesting that the motor proper
30 and one Dutch) with autosomal dominant, non-syndromic hearing loss to have mutations in COL11A2 that
31 ations reported only in individuals with non-syndromic hearing loss (V480D, V653A and I490L/G497S).
33 y from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred
34 ation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations of t