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Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...
by
Neuhaus, Christine
,
Eisenberger, Tobias
,
Decker, Christian
,
Nagl, Sandra
,
Blank, Cornelia
,
Pfister, Markus
,
Kennerknecht, Ingo
,
Müller‐Hofstede, Cornelie
,
Charbel Issa, Peter
,
Heller, Raoul
,
Beck, Bodo
,
Rüther, Klaus
,
Mitter, Diana
,
Rohrschneider, Klaus
,
Steinhauer, Ute
,
Korbmacher, Heike M.
,
Huhle, Dagmar
,
Elsayed, Solaf M.
,
Taha, Hesham M.
,
Baig, Shahid M.
,
Stöhr, Heidi
,
Preising, Markus
,
Markus, Susanne
,
Moeller, Fabian
,
Lorenz, Birgit
,
Nagel‐Wolfrum, Kerstin
,
Khan, Arif O.
,
Bolz, Hanno J.
Published in
Molecular genetics & genomic medicine
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Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...
by
Neuhaus, Christine
,
Eisenberger, Tobias
,
Decker, Christian
,
Nagl, Sandra
,
Blank, Cornelia
,
Pfister, Markus
,
Kennerknecht, Ingo
,
Cornelie Müller‐Hofstede
,
Issa, Peter Charbel
,
Heller, Raoul
,
Beck, Bodo
,
Rüther, Klaus
,
Mitter, Diana
,
Rohrschneider, Klaus
,
Steinhauer, Ute
,
Korbmacher, Heike M
,
Huhle, Dagmar
,
Elsayed, Solaf M
,
Taha, Hesham M
,
Baig, Shahid M
,
Stöhr, Heidi
,
Preising, Markus
,
Markus, Susanne
,
Moeller, Fabian
,
Lorenz, Birgit
,
Kerstin Nagel‐Wolfrum
,
Khan, Arif O
,
Bolz, Hanno J
Published in
Molecular genetics & genomic medicine
Get full text
Article
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Molecular Genetics & Genomic Medicine
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Subjects
Deafness
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Alleles
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Copy Number
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Copy Number Variation
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Cytogenetics
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Degeneration
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Diagnosis
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Dna Sequencing
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Dysplasia
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Enamel
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Gene Mutations
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Gene Sequencing
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Genes
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Genetic Aspects
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Genetic Disorders
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Genetic Research
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Genetics & Heredity
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Hearing Loss
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Heimler Syndrome
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