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journalStr:"The annals of otology, rhinology and laryngology"
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PubPharm (9)
1
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Miyagawa, M.
|
Nishio, S.
|
Kumakawa, K.
| +1
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2
The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Miyagawa, M.
|
Nishio, S.
|
Sakurai, Y.
| +5
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3
Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Miyagawa, M.
|
Nishio, S.
|
Hattori, M.
| +7
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4
Mutations in LOXHD1 gene cause various types and severities of hearing loss
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Mori, K.
|
Moteki, H.
|
Kobayashi, Y.
| +6
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5
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Sakuma, N.
|
Moteki, H.
|
Azaiez, H.
| +11
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6
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Moteki, H.
|
Shearer, A.
|
Izumi, S.
| +7
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7
Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Mori, K.
|
Miyanohara, I.
|
Moteki, H.
| +3
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8
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Moteki, H.
|
Yoshimura, H.
|
Azaiez, H.
| +7
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9
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports
enthalten in:
The annals of otology, rhinology and laryngology
| 2015
von
Yoshimura, H.
|
Oshikawa, C.
|
Nakayama, J.
| +2
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Zeitschrift: The annals of otology, rhinology and laryngology
Medienart
9
Aufsätze
9
Gedruckte Aufsätze
Zeitschriftentitel
The annals of otology, rhinology and laryngology
Thema
9
Asian Continental Ancestry Group - genetics
7
Deafness - genetics
4
Hearing Loss, Sensorineural - genetics
4
Sequence Analysis, DNA - methods
2
DNA Mutational Analysis - methods
2
Membrane Proteins - genetics
2
Usher Syndromes - genetics
1
Carrier Proteins - genetics
1
Deafness - physiopathology
1
Developmental Disabilities - genetics
1
Dizziness - genetics
1
Glutaredoxins - genetics
1
Hearing Loss - genetics
1
Hearing Loss, Sensorineural - congenital
1
Hearing Loss, Sensorineural - physiopathology
1
High-Throughput Nucleotide Sequencing - methods
1
Mutation, Missense - physiology
1
Myosin Heavy Chains - genetics
1
Myosins - genetics
1
Neoplasm Proteins - genetics
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Englisch
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