Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

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Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

P2860

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P2860

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Diagnostic outcomes of exome s ...... or non-syndromic hearing loss.

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Diagnostic outcomes of exome s ...... or non-syndromic hearing loss.

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type

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Diagnostic outcomes of exome s ...... or non-syndromic hearing loss.

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Diagnostic outcomes of exome s ...... or non-syndromic hearing loss.

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Diagnostic outcomes of exome s ...... or non-syndromic hearing loss.

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Diagnostic outcomes of exome s ...... or non-syndromic hearing loss.

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P1476

Diagnostic outcomes of exome s ...... or non-syndromic hearing loss

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P2093

Aleš Maver

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Borut Peterlin

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Mensuda Hasanhodžić

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Nataša Teran

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Tina Likar

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P2860

Identification 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 II

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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

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e0188578

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scholarly article

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10.1371/JOURNAL.PONE.0188578

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English

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Karin Writzl

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2018-01-02T00:00:00Z

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29293505

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5749682

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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

about

P2860

P2860

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932