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Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.013. , 2022

Link: https://hal.science/hal-03840317

RT Journal
T1 <Title>Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivnantes:oai:HAL:hal-03840317v1&Exemplar=1&LAN=DE
				
A1 Morsy, Heba
A1 Benkirane, Mehdi
A1 Cali, Elisa
A1 Rocca, Clarissa
A1 Zhelcheska, Kristina
A1 Cipriani, Valentina
A1 Galanaki, Evangelia
A1 Maroofian, Reza
A1 Efthymiou, Stephanie
A1 Murphy, David
A1 O'Driscoll, Mary
A1 Suri, Mohnish
A1 Banka, Siddharth Manish
A1 Clayton-Smith, Jill
A1 Wright, Thomas
A1 Redman, Melody
A1 Bassetti, Jennifer
A1 Nizon, Mathilde
A1 Cogné, Benjamin
A1 Jamra, Rami Abu
A1 Bartolomaeus, Tobias
A1 Heruth, Marion
A1 Krey, Ilona
A1 Gburek-Augustat, Janina
A1 Wieczorek, Dagmar
A1 Gattermann, Felix
A1 Mcentagart, Meriel
A1 Goldenberg, Alice
A1 Guyant-Maréchal, Lucie
A1 Garcia-Moreno, Hector
A1 Giunti, Paola
A1 Chabrol, Brigitte
A1 Bacrot, Severine
A1 Buissonnière, Roger
A1 Magry, Virginie
A1 Gowda, Vykuntaraju
A1 M., Varunvenkat, Srinivasan
A1 Melegh, Béla
A1 Szabó, András
A1 Sümegi, Katalin
A1 Cossée, Mireille
A1 Ziff, Monica
A1 Butterfield, Russell
A1 Hunt, David
A1 Bird-Lieberman, Georgina
A1 Hanna, Michael
A1 Koenig, Michel
A1 Stankewich, Michael
A1 Vandrovcova, Jana
A1 Houlden, Henry
PB HAL CCSD; Nature Publishing Group
YR 2022
K1 Developmental delay
K1 Developmental epileptic encephalopathy
K1 Hereditary ataxia
K1 Hereditary spastic paraplegia
K1 SPTAN1
K1 [SDV]Life Sciences [q-bio]
JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.013
LK http://dx.doi.org/https://hal.science/hal-03840317
DO https://hal.science/hal-03840317
SF ELIB - SuUB Bremen

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