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1 Ergebnisse
1
De novo DHDDS variants cause a neurodevelopmental and neuro..:
Galosi, Serena
;
Edani, Ban H
;
Martinelli, Simone
...
info:eu-repo/semantics/altIdentifier/pmid/34382076. , 2022
Link:
http://hdl.handle.net/2318/1808625
RT Journal T1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
UL https://suche.suub.uni-bremen.de/peid=base-ftunivtorino:oai:iris.unito.it:2318_1808625&Exemplar=1&LAN=DE A1 Galosi, Serena A1 Edani, Ban H A1 Martinelli, Simone A1 Hansikova, Hana A1 Eklund, Erik A A1 Caputi, Caterina A1 Masuelli, Laura A1 Corsten-Janssen, Nicole A1 Srour, Myriam A1 Oegema, Renske A1 Bosch, Daniëlle G M A1 Ellis, Colin A A1 Amlie-Wolf, Louise A1 Accogli, Andrea A1 Atallah, Isis A1 Averdunk, Luisa A1 Barañano, Kristin W A1 Bei, Roberto A1 Bagnasco, Irene A1 Brusco, Alfredo A1 Demarest, Scott A1 Alaix, Anne-Sophie A1 Di Bonaventura, Carlo A1 Distelmaier, Felix A1 Elmslie, Frances A1 Gan-Or, Ziv A1 Good, Jean-Marc A1 Gripp, Karen A1 Kamsteeg, Erik-Jan A1 Macnamara, Ellen A1 Marcelis, Carlo A1 Mercier, Noëlle A1 Peeden, Joseph A1 Pizzi, Simone A1 Pannone, Luca A1 Shinawi, Marwan A1 Toro, Camilo A1 Verbeek, Nienke E A1 Venkateswaran, Sunita A1 Wheeler, Patricia G A1 Zdrazilova, Lucie A1 Zhang, Rong A1 Zorzi, Giovanna A1 Guerrini, Renzo A1 Sessa, William C A1 Lefeber, Dirk A1 Tartaglia, Marco A1 Hamdan, Fadi F A1 Grabińska, Kariona A A1 Leuzzi, Vincenzo YR 2022 K1 congenital disorders of glycosylation K1 dolichol K1 movement disorder K1 myoclonus epilepsy K1 neurodegenerative disorder K1 DHDDS JF info:eu-repo/semantics/altIdentifier/pmid/34382076 LK http://hdl.handle.net/2318/1808625 DO http://hdl.handle.net/2318/1808625 SF ELIB - SuUB Bremen
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