EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Umfang
-
Online-Ressource
- Sprache
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Englisch
- Anmerkungen
-
online resource.
- Erschienen in
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations ; volume:9 ; number:1 ; day:13 ; month:2 ; year:2014 ; pages:1-10 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (13.2.2014), 1-10, 12.2014
- Urheber
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Eggens, Veerle RC
- Beteiligte Personen und Organisationen
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Barth, Peter G.
Niermeijer, Jikke-Mien F.
Berg, Jonathan N.
Darin, Niklas
Dixit, Abhijit
Fluss, Joël
Foulds, Nicola
Fowler, Darren
Hortobágyi, Tibor
Jacques, Thomas
King, Mary D.
Makrythanasis, Periklis
Máté, Adrienn
Nicoll, James AR
O’Rourke, Declan
Price, Sue
Williams, Andrew N.
Wilson, Louise
Suri, Mohnish
Sztriha, László
Dijns-de Wissel, Marit B.
van Meegen, Mia T.
van Ruissen, Fred
Aronica, Eleonora
Troost, Dirk
Majoie, Charles BLM
Marquering, Henk A.
Poll-The, Bwee Tien
Baas, Frank
SpringerLink (Online service)
- DOI
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10.1186/1750-1172-9-23
- URN
-
urn:nbn:de:1111-2016050126133
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:49 MESZ
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Beteiligte
- Eggens, Veerle RC
- Barth, Peter G.
- Niermeijer, Jikke-Mien F.
- Berg, Jonathan N.
- Darin, Niklas
- Dixit, Abhijit
- Fluss, Joël
- Foulds, Nicola
- Fowler, Darren
- Hortobágyi, Tibor
- Jacques, Thomas
- King, Mary D.
- Makrythanasis, Periklis
- Máté, Adrienn
- Nicoll, James AR
- O’Rourke, Declan
- Price, Sue
- Williams, Andrew N.
- Wilson, Louise
- Suri, Mohnish
- Sztriha, László
- Dijns-de Wissel, Marit B.
- van Meegen, Mia T.
- van Ruissen, Fred
- Aronica, Eleonora
- Troost, Dirk
- Majoie, Charles BLM
- Marquering, Henk A.
- Poll-The, Bwee Tien
- Baas, Frank
- SpringerLink (Online service)
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