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Clive P. Morgan et al.
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IBS: an illustrator for the presentation and visualization of biological sequences
Wenzhong Liu et al.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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A. Eliot Shearer et al.
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T. Requena et al.
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Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
Hidekane Yoshimura et al.
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Margit Schraders et al.
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Qing Yin Zheng et al.
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
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Inga Ebermann et al.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
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A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells
Martin Schwander et al.
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Shroom2, a myosin-VIIa-and actin-binding protein, directly interacts with ZO-1 at tight junctions
Raphael Etournay et al.
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Nicolas Michalski et al.
JOURNAL OF NEUROSCIENCE (2007)
Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
M Senften et al.
JOURNAL OF NEUROSCIENCE (2006)
Development and properties of stereociliary link types in hair cells of the mouse cochlea
RJ Goodyear et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2005)
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
MD Weston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
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ZM Ahmed et al.
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D Weil et al.
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APM de Brouwer et al.
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Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
B Boëda et al.
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Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
XM Ouyang et al.
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ZM Ahmed et al.
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H Bolz et al.
NATURE GENETICS (2001)
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JM Bork et al.
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Mariner is defective in myosin VIIA:: a zebrafish model for human hereditary deafness
S Ernest et al.
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