Cochlear implantation in Donnai-Barrow syndrome. - sprookjes - yvandenbroek - TriplyDB

Cochlear implantation in Donnai-Barrow syndrome.

Cochlear implantation in Donnai-Barrow syndrome.

http://www.wikidata.org/entity/Q37901102

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Cochlear implantation in Donnai-Barrow syndrome.

http://www.wikidata.org/entity/Q37901102

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article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on February 2011

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Cochlear implantation in Donnai-Barrow syndrome.

@en

Cochlear implantation in Donnai-Barrow syndrome.

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type

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Cochlear implantation in Donnai-Barrow syndrome.

@en

Cochlear implantation in Donnai-Barrow syndrome.

@nl

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Cochlear implantation in Donnai-Barrow syndrome.

@en

Cochlear implantation in Donnai-Barrow syndrome.

@nl

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146701010X486534

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Cochlear Implants International

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Cochlear implantation in Donnai-Barrow syndrome

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Kevin M J Green

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Lise Henderson

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Richard T Ramsden

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Stephen J Broomfield

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P2860

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

Ocular manifestations of Donnai-Barrow syndrome.

High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.

Donnai-Barrow syndrome: four additional patients.

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60-63

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scholarly article

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10.1179/146701010X486534

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