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Marlin, S.* ; Mercati, O.* ; Warde, M.A.* ; Lina-Granade, G.* ; Rio, M.* ; Heide, S.* ; de Lonlay, P.* ; Ceballos-Picot, I.* ; Robert, M.* ; Couloigner, V.* ; Beltrand, J.* ; Boddaert, N.* ; Rodriguez, D.* ; Rotig, A.* ; Prokisch, H. ; Lyonnet, S.* ; Loundon, N.* ; Kaplan, J.* ; Bonnefont, J.* ; Munnich, A.* ; Besmond, C.* ; Jonard, L.*

PRPS1loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy.

Eur. J. Hum. Genet. 27, 1239-1239 (2019)
Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Meeting abstract
Corresponding Author
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Journal European Journal of Human Genetics
Quellenangaben Volume: 27, Issue: , Pages: 1239-1239 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place Macmillan Building, 4 Crinan St, London N1 9xw, England
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)