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PubPharm (89)
1
Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels
enthalten in:
bioRxiv.org
| 2024
von
Jang, M.
|
Oh, D.
|
Yi, E.
| +40
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2
Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs
enthalten in:
Human cell
| 2024
von
Li, S.
|
Mei, L.
|
He, C.
| +6
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3
PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids
enthalten in:
Biochemical and biophysical research communications
| 2024
von
Li, S.
|
He, C.
|
Mei, L.
| +3
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4
Identification of a Family with van der Hoeve's syndrome Harboring a Novel COL1A1 Mutation and Generation of Patient-Derived iPSC Lines and CRISPR/Cas9-Corrected Isogenic iPSCs
enthalten in:
ResearchSquare.com
| 2024
von
Li, S.
|
Mei, L.
|
He, C.
| +4
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5
Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs
enthalten in:
Human cell
| 2024
von
Li, S.
|
Mei, L.
|
He, C.
| +6
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6
Application and efficacy analysis of tympanic cartilage shaping device in endoscopic type Ⅰ tympanoplasty
enthalten in:
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery
| 2024
von
Jin, Y.
|
He, C.
|
Cai, X.
| +7
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7
Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes
enthalten in:
Pigment cell & melanoma research
| 2024
von
Wen, J.
|
Song, J.
|
Chen, J.
| +8
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8
A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome : Implications for Molecular Diagnosis and Clinical Application
enthalten in:
Clinical and experimental otorhinolaryngology
| 2023
von
Chen, A.
|
Ling, J.
|
Peng, X.
| +13
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9
Type 2 cytokines promote angiogenesis in ischemic muscle via endothelial IL-4Rα signaling
enthalten in:
Cell reports
| 2023
von
Li, H.
|
He, C.
|
Zhu, R.
| +6
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10
Nutritional Assessment of Plant-Based Meat Products Available on Hong Kong Market : A Cross-Sectional Survey
enthalten in:
Nutrients
| 2023
von
Zhang, Q.
|
Liu, Y.
|
He, C.
| +4
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Thema
61
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Research Support, Non-U.S. Gov't
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Hearing loss
10
Microphthalmia-Associated Transcription Factor
10
Waardenburg syndrome
9
PAX3 Transcription Factor
8
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Connexins
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MITF protein, human
7
SLC26A4 protein, human
6
English Abstract
6
PAX3 protein, human
5
127120-53-0
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Connexin 26
5
Haploinsufficiency
5
Membrane Transport Proteins
5
Mutation
5
SOXE Transcription Factors
4
EVA
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2020-
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