Novel EYA1 variants causing Branchio-oto-renal syndrome.

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Novel EYA1 variants causing Branchio-oto-renal syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Novel EYA1 variants causing Branchio-oto-renal syndrome.

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Novel EYA1 variants causing Branchio-oto-renal syndrome.

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Item

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Novel EYA1 variants causing Branchio-oto-renal syndrome.

@en

Novel EYA1 variants causing Branchio-oto-renal syndrome.

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Novel EYA1 variants causing Branchio-oto-renal syndrome.

@en

Novel EYA1 variants causing Branchio-oto-renal syndrome.

@nl

P1476

Novel EYA1 variants causing Branchio-oto-renal syndrome.

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P2093

Andrea Carrera-Gonzalez

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Christopher M Greenland

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Filiz Basak Cengiz

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Hakan Gurkan

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Ibis Menendez

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Joseph Foster

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Kyle D Klingbeil

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Mahdiyeh Behnam

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Nursel Elcioglu

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Reza Maroofian

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P2860

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

Copy number variation detection and genotyping from exome sequence data.

A second-generation linkage map of the human genome.

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study.

Ear and kidney syndromes: molecular versus clinical approach.

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

P304

59-63

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P31

scholarly article

P356

10.1016/J.IJPORL.2017.04.037

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P478

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P50

Guney Bademci

Mustafa Tekin

Stefany Montúfar Armendáriz

D Duman

Arianne Llamos Paneque

Rosario Paredes

P577

2017-04-26T00:00:00Z

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P698

28583505

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P932

5516569

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