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topic_facet:"Hearing loss"
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PubPharm (10)
1
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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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
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
enthalten in:
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
| 2021
von
Niu, Z.
|
Mei, L.
|
Tang, F.
| +10
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4
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
enthalten in:
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
| 2020
von
Liu, Y.
|
Wen, J.
|
Sang, S.
| +5
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5
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
enthalten in:
European archives of oto-rhino-laryngology and head & neck
| 2020
von
Niu, Z.
|
Mei, L.
|
Tang, F.
| +10
Wird geladen...
6
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
enthalten in:
European archives of oto-rhino-laryngology and head & neck
| 2020
von
Niu, Z.
|
Mei, L.
|
Tang, F.
| +10
Wird geladen...
7
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
enthalten in:
European archives of oto-rhino-laryngology and head & neck
| 2020
von
Niu, Z.
|
Mei, L.
|
Tang, F.
| +10
Wird geladen...
8
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
enthalten in:
European archives of oto-rhino-laryngology and head & neck
| 2020
von
Liu, Y.
|
Wen, J.
|
Sang, S.
| +5
Wird geladen...
9
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
enthalten in:
European archives of oto-rhino-laryngology and head & neck
| 2020
von
Liu, Y.
|
Wen, J.
|
Sang, S.
| +5
Wird geladen...
10
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
enthalten in:
European archives of oto-rhino-laryngology and head & neck
| 2020
von
Liu, Y.
|
Wen, J.
|
Sang, S.
| +5
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1
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Thema: Hearing loss
Medienart
10
Aufsätze
8
E-Artikel
8
E-Ressourcen
2
Gedruckte Aufsätze
Zeitschriftentitel
6
European archives of oto-rhino-laryngology and ...
2
European archives of oto-rhino-laryngology : of...
2
Human cell
Thema
Hearing loss
4
EVA
4
Genetic mutations
4
Haploinsufficiency
4
Mutation
4
Next-generation sequencing
4
Waardenburg syndrome
3
Journal Article
2
COL1A1
2
CRISPR/Cas9
2
Osteogenesis imperfecta
2
iPSC
1
Collagen Type I
1
Collagen Type I, alpha 1 Chain
1
FOXI1 protein, human
1
Forkhead Transcription Factors
1
Kcnj10 (channel)
1
Membrane Transport Proteins
1
PAX3
1
PAX3 Transcription Factor
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Erscheinungszeitraum
2
2024
1
2021
7
2020
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