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
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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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
- Urheber
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Burglen, Lydie
- Beteiligte Personen und Organisationen
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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
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:44 MESZ
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Beteiligte
- 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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