EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: 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

Creator: Eggens, Veerle RC

Contributor: 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: 10.1186/1750-1172-9-23

URN: urn:nbn:de:1111-2016050126133

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:49 AM CEST

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Associated

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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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

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Other Objects (12)

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