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PubPharm (179)
1
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome : insights from a large Chinese hearing loss cohort
enthalten in:
Journal of medical genetics
| 2024
von
Yan, X.
|
Wang, J.
|
Yang, W.
| +11
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2
NCAD v1.0 : a database for non-coding variant annotation and interpretation
enthalten in:
Journal of genetics and genomics = Yi chuan xue bao
| 2024
von
Feng, X.
|
Liu, S.
|
Li, K.
| +2
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3
Exploring noncoding variants in genetic diseases : from detection to functional insights
enthalten in:
Journal of genetics and genomics = Yi chuan xue bao
| 2024
von
Wu, K.
|
Bu, F.
|
Wu, Y.
| +6
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4
Clinical practice guidelines for gene therapy to treat hereditary hearing loss
enthalten in:
Interdisciplinary Medicine
| 2024
von
Qi, J.
|
Tan, F.
|
Zhang, L.
| +48
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5
Quantitative thresholds for variant enrichment in 13,845 cases : improving pathogenicity classification in genetic hearing loss
enthalten in:
Genome medicine
| 2023
von
Liu, S.
|
Zhong, M.
|
Huang, Y.
| +11
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6
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss
enthalten in:
Genome medicine
| 2023
von
Liu, S.
|
Zhong, M.
|
Huang, Y.
| +11
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7
GSDMD gene knockout alleviates hyperoxia-induced hippocampal brain injury in neonatal mice
enthalten in:
Journal of neuroinflammation
| 2023
von
Challa, N.
|
Chen, S.
|
Yuan, H.
| +8
UpdateOf: Res Sq. 2023 Jun 15;:. - PMID 37398125
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8
GSDMD gene knockout alleviates hyperoxia-induced hippocampal brain injury in neonatal mice
enthalten in:
Journal of neuroinflammation
| 2023
von
Challa, N.
|
Chen, S.
|
Yuan, H.
| +8
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9
GSDMD gene knockout alleviates hyperoxia-induced hippocampal brain injury in neonatal mice
enthalten in:
Journal of neuroinflammation
| 2023
von
Challa, N.
|
Chen, S.
|
Yuan, H.
| +8
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10
A pangenome reference of 36 Chinese populations
enthalten in:
Nature
| 2023
von
Gao, Y.
|
Yang, X.
|
Chen, H.
| +40
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Acta oto-laryngologica
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Lin chuang er bi yan hou tou jing wai ke za zhi...
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American journal of medical genetics. Part A
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127120-53-0
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Connexin 26
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14
RNA, Ribosomal
13
DNA, Mitochondrial
13
GJB2 protein, human
13
RNA, ribosomal, 12S
11
Case Reports
9
Membrane Transport Proteins
9
SLC26A4 protein, human
9
Sulfate Transporters
8
Membrane Proteins
7
Hearing loss
7
mutation
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615
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A61K: Preparations for medical, dental, or toil...
6
A61P: Specific therapeutic activity of chemical...
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