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1 Ergebnisse
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IQSEC2-related encephalopathy in males and females: a compa..:
Mignot, Cyril
;
Mcmahon, Aoife
;
Bar, Claire
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-018. , 2019
Link:
https://hal.sorbonne-universite.fr/hal-01919142
RT Journal T1
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
UL https://suche.suub.uni-bremen.de/peid=base-ftunivstetienne:oai:HAL:hal-01919142v1&Exemplar=1&LAN=DE A1 Mignot, Cyril A1 Mcmahon, Aoife A1 Bar, Claire A1 Campeau, Philippe A1 Davidson, David A1 Buratti, Julien A1 Nava, Caroline A1 Jacquemont, Marie-Line A1 Tallot, Marilyn A1 Milh, Mathieu A1 Edery, Patrick A1 Marzin, Pauline A1 Barcia, Giulia A1 Barnerias, Christine A1 Besmond, Claude A1 Bienvenu, Thierry A1 Bruel, Ange-Line A1 Brunga, Ledia A1 Ceulemans, Berten A1 Coubes, Christine A1 Cristancho, Ana A1 Cunningham, Fiona A1 Dehouck, Marie-Bertille A1 Donner, Elizabeth A1 Duban-Bedu, Bénédicte A1 Dubourg, Christèle A1 Gardella, Elena A1 Gauthier, Julie A1 Genevieve, David A1 Gobin-Limballe, Stéphanie A1 Goldberg, Ethan A1 Hagebeuk, Eveline A1 Hamdan, Fadi A1 Hančárová, Miroslava A1 Hubert, Laurence A1 Ioos, Christine A1 Ichikawa, Shoji A1 Janssens, Sandra A1 Journel, Hubert A1 Kaminska, Anna A1 Keren, Boris A1 Koopmans, Marije A1 Lacoste, Caroline A1 Laššuthová, Petra A1 Lederer, Damien A1 Lehalle, Daphne A1 Marjanovic, Dragan A1 Metreau, Julia A1 Michaud, Jacques A1 Miller, Kathryn A1 Minassian, Berge A1 Morales, Joannella A1 Moutard, Marie-Laure A1 Munnich, Arnold A1 Ortiz-Gonzalez, Xilma A1 Pinard, Jean-Marc A1 Prchalová, Darina A1 Putoux, Audrey A1 Quélin, Chloé A1 Rosen, Alyssa A1 Roume, Joëlle A1 Rossignol, Elsa A1 Simon, Marleen A1 Smol, Thomas A1 Shur, Natasha A1 Shelihan, Ivan A1 Štěrbová, Katalin A1 Vyhnálková, Emílie A1 Vilain, Catheline A1 Soblet, Julie A1 Smits, Guillaume A1 Yang, Samuel A1 van Der Smagt, Jasper A1 van Hasselt, Peter A1 van Kempen, Marjan A1 Weckhuysen, Sarah A1 Helbig, Ingo A1 Villard, Laurent A1 Héron, Delphine A1 Koeleman, Bobby A1 Møller, Rikke A1 Lesca, Gaetan A1 Helbig, Katherine, L A1 Nabbout, Rima A1 Verbeek, Nienke, E A1 Depienne, Christel PB HAL CCSD; Nature Publishing Group YR 2019 K1 intellectual disability K1 isoforms K1 epilepsy K1 X-linked inheritance K1 IQSEC2 K1 [SDV]Life Sciences [q-bio] K1 [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-018 LK http://dx.doi.org/https://hal.sorbonne-universite.fr/hal-01919142 DO https://hal.sorbonne-universite.fr/hal-01919142 SF ELIB - SuUB Bremen
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