Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction (Q38981763)

8 September 2017

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction (English)

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8 September 2017

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Gudrun Nürnberg

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Peter Charbel Issa

object named as

Peter Charbel Issa

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Peter Nürnberg

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object named as

Peter Nürnberg

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8 September 2017

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Christian Becker

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8 September 2017

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Hendrik P N Scholl

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8 September 2017

Inga Ebermann

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8 September 2017

Martin Walger

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8 September 2017

Christoph Lüke

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8 September 2017

Ruth Lang-Roth

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8 September 2017

Hanno J Bolz

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8 September 2017

1 June 2007

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8 September 2017

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8 September 2017

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8 September 2017

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8 September 2017

571-577

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A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

8 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

GRR: graphical representation of relationship errors

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Allegro, a new computer program for multipoint linkage analysis

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Otoacoustic emissions, their origin in cochlear function, and use.

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Standard for clinical electroretinography (2004 update).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Newborn hearing screening--a silent revolution

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https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Absence of both auditory evoked potentials and auditory percepts dependent on timing cues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20478

1 reference

7 January 2021

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20478

7 January 2021

Identifiers

DOI

10.1002/HUMU.20478

1 reference

8 September 2017

1 reference