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1 research outputs found
Homozygous mutation in the <i>Neurofascin</i> gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
Author
Anna Biernacka
Anna Walczak
+32Â more
Barbara Krolak-Olejnik
Bhat
Collinson
Davis
Devaux
Diane L Sherman
Diederich
Dorota Mikolajkow
Genomes Project C
Joanna Kosińska
Lek
Malgorzata Marciniak
Maria Boczar
Maria M Sasiadek
Małgorzata Rydzanicz
Narasimhan
Paweł Krajewski
Peter J Brophy
Pillai
Piotr Gasperowicz
Piotr Stawinski
Ploski
Rafal Ploski
Robert Smigiel
Roche
Sherman
Tait
Van der Auwera
Witalij Andrzejewski
Zhang
Zonta
Zonta
Publication venue
'Oxford University Press (OUP)'
Publication date
01/11/2018
Field of study
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Crossref
Edinburgh Research Explorer