Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder ; volume:10 ; number:1 ; day:13 ; month:4 ; year:2023 ; pages:1-4 ; date:12.2023
Human genome variation ; 10, Heft 1 (13.4.2023), 1-4, 12.2023
- Creator
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Sonoyama, Toru
Ishino, Takashi
Ogawa, Yui
Oda, Takashi
Takeno, Sachio
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41439-023-00236-x
- URN
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urn:nbn:de:101:1-2024032510233814242592
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 11:00 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Sonoyama, Toru
- Ishino, Takashi
- Ogawa, Yui
- Oda, Takashi
- Takeno, Sachio
- SpringerLink (Online service)
Other Objects (12)
Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
Therapieansätze für Nonsense-Mutationen bei Succinat-Semialdehyd-Dehydrogenase-Defizit
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
An immunocompetent patient with a nonsense mutation in NHEJ1 gene
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Combined immunodeficiency caused by a novel nonsense mutation in LCK
Autism spectrum disorder
Ataluren treatment of patients with nonsense mutation dystrophinopathy: ataluren for dystrophinopathy
"Pernicious nonsense"
Nonsense verse
Nonsense novels
Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
Therapieansätze für Nonsense-Mutationen bei Succinat-Semialdehyd-Dehydrogenase-Defizit
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
An immunocompetent patient with a nonsense mutation in NHEJ1 gene
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Combined immunodeficiency caused by a novel nonsense mutation in LCK
Autism spectrum disorder
Ataluren treatment of patients with nonsense mutation dystrophinopathy: ataluren for dystrophinopathy
"Pernicious nonsense"
Nonsense verse
Nonsense novels
Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
Therapieansätze für Nonsense-Mutationen bei Succinat-Semialdehyd-Dehydrogenase-Defizit
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
An immunocompetent patient with a nonsense mutation in NHEJ1 gene
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Combined immunodeficiency caused by a novel nonsense mutation in LCK
Autism spectrum disorder
Ataluren treatment of patients with nonsense mutation dystrophinopathy: ataluren for dystrophinopathy
"Pernicious nonsense"
Nonsense verse