Usher syndrome in Denmark: mutation spectrum and some clinical observations

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The genetic dissection of Myo7a gene expression in the retinas of BXD mice.

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Q49841493-902D815E-C8B6-4B57-AC94-CD5EE46C5B67

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Usher syndrome in Denmark: mutation spectrum and some clinical observations

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 28 June 2016

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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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Usher syndrome in Denmark: mutation spectrum and some clinical observations

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Usher syndrome in Denmark: mutation spectrum and some clinical observations.

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Usher syndrome in Denmark: mutation spectrum and some clinical observations

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Usher syndrome in Denmark: mutation spectrum and some clinical observations.

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Usher syndrome in Denmark: mutation spectrum and some clinical observations

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Usher syndrome in Denmark: mutation spectrum and some clinical observations.

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P1476

Usher syndrome in Denmark: mutation spectrum and some clinical observations

@en

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Anne-Françoise Roux

http://www.w3.org/2001/XMLSchema#string

Hanne Jensen

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Helena Gásdal Karstensen

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Lisbeth Tranebjærg

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Nanna Dahl Rendtorff

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Shzeena Dad

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Thomas Rosenberg

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Vigdis Brox

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Øivind Nilssen

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Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Usher syndrome in the city of Birmingham--prevalence and clinical classification

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Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

Genetic mapping and exome sequencing identify variants associated with five novel diseases

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Normative data for the "Sniffin' Sticks" including tests of odor identification, odor discrimination, and olfactory thresholds: an upgrade based on a group of more than 3,000 subjects.

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527-539

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scholarly article

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10.1002/MGG3.228

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http://www.w3.org/2001/XMLSchema#string

P478

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Lisbeth Birk Møller

K Grønskov

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2016-06-28T00:00:00Z

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27957503

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5023938

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Usher syndrome in Denmark: mutation spectrum and some clinical observations

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Usher syndrome in Denmark: mutation spectrum and some clinical observations

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932