Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient ; volume:7 ; number:1 ; day:27 ; month:3 ; year:2012 ; pages:1-13 ; date:12.2012
Orphanet journal of rare diseases ; 7, Heft 1 (27.3.2012), 1-13, 12.2012
- Creator
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Burglen, Lydie
- Contributor
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Chantot-Bastaraud, Sandra
Garel, Catherine
Milh, Mathieu
Touraine, Renaud
Zanni, Ginevra
Petit, Florence
Afenjar, Alexandra
Goizet, Cyril
Barresi, Sabina
Coussement, Aurélie
Ioos, Christine
Lazaro, Leila
Joriot, Sylvie
Desguerre, Isabelle
Lacombe, Didier
des Portes, Vincent
Bertini, Enrico
Siffroi, Jean-Pierre
Billette de Villemeur, Thierry
Rodriguez, Diana
SpringerLink (Online service)
- DOI
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10.1186/1750-1172-7-18
- URN
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urn:nbn:de:1111-2016050120912
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:44 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Burglen, Lydie
- Chantot-Bastaraud, Sandra
- Garel, Catherine
- Milh, Mathieu
- Touraine, Renaud
- Zanni, Ginevra
- Petit, Florence
- Afenjar, Alexandra
- Goizet, Cyril
- Barresi, Sabina
- Coussement, Aurélie
- Ioos, Christine
- Lazaro, Leila
- Joriot, Sylvie
- Desguerre, Isabelle
- Lacombe, Didier
- des Portes, Vincent
- Bertini, Enrico
- Siffroi, Jean-Pierre
- Billette de Villemeur, Thierry
- Rodriguez, Diana
- SpringerLink (Online service)
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
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Prediction and experimental confirmation of banana bract mosaic virus encoding miRNAs and their targets
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