Prevalence and geographical distribution of Usher syndrome in Germany.
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Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patientsIdentification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIAlternative splice variants of the USH3A gene Clarin 1 (CLRN1)Clinical Trials in Retinal DystrophiesThe Health and Well-Being of Older Adults with Dual Sensory Impairment (DSI) in Four CountriesDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeMolecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingMolecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaMutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsChildren with Usher syndrome: mental and behavioral disorders.The expression of whirlin and Cav1.3α₁ is mutually independent in photoreceptors.Usher syndrome: molecular links of pathogenesis, proteins and pathways.Partial USH2A deletions contribute to Usher syndrome in Denmark.The changing face of Usher syndrome: clinical implications.Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencingDevelopment of a genotyping microarray for Usher syndromeGenetics and pathological mechanisms of Usher syndrome.Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature.Field testing of two electronic mobility aid devices for persons who are deaf-blind.Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa.Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.Molecular epidemiology of Usher syndrome in Italy.Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.Extended mutation spectrum of Usher syndrome in Finland.Early visual symptom patterns in inherited retinal dystrophies.Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.Phenotypes in defined genotypes including siblings with Usher syndrome.Expressivity of hearing loss in cases with Usher syndrome type IIA.Functional analysis of splicing mutations in MYO7A and USH2A genes.Audiological findings in Usher syndrome types IIa and II (non-IIa).
P2860
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P2860
Prevalence and geographical distribution of Usher syndrome in Germany.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Prevalence and geographical distribution of Usher syndrome in Germany.
@en
Prevalence and geographical distribution of Usher syndrome in Germany.
@nl
type
label
Prevalence and geographical distribution of Usher syndrome in Germany.
@en
Prevalence and geographical distribution of Usher syndrome in Germany.
@nl
prefLabel
Prevalence and geographical distribution of Usher syndrome in Germany.
@en
Prevalence and geographical distribution of Usher syndrome in Germany.
@nl
P1476
Prevalence and geographical distribution of Usher syndrome in Germany.
@en
P2093
Klaus Rohrschneider
Ulrich H M Spandau
P2888
P304
P356
10.1007/S00417-002-0485-8
P577
2002-05-23T00:00:00Z