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autoimmunity
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article
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2024
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2021
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2020
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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
2024 .
UNG, Dévina
|
Pietrancosta, Nicolas
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Baz-Badillo, Elena
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Raux, Brigitt
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Tapken, Daniel
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Zlatanovic, Andjela
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Doridant, Adrien
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Pode-Shakked, Ben
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Raas-Rothschild, Annick
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Elpeleg, Orly
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Abu-Libdeh, Bassam
|
Hamed, Nasrin
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Papon, Marie-Amélie
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Marouillat, Sylviane
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Thépault, Rose-Anne
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Stevanin, Giovanni
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Elegheert, Jonathan
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Letellier, Mathieu
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Hollmann, Michael
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lambolez, bertrand
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Tricoire, Ludovic
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Toutain, Annick
|
HEPP, regine
|
Laumonnier, Frédéric
2024
http://purl.org/ontology/bibo/Article
Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling
2024 .
Guhathakurta, Debarpan
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Selzam, Franziska
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Petrušková, Aneta
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Weiss, Eva-Maria
|
akdas, Enes Yagiz
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Montenegro Venegas, Carolina
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Zenker, Martin
|
Fejtova, Anna
2024
http://purl.org/ontology/bibo/Article
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies
2024 .
Borisch, Carla
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Thum, Thomas
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Bär, Christian
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Hoepfner, Jeannine
2024
http://purl.org/ontology/bibo/Article
Cell Type-Specific Role of RNA Nuclease SMG6 in Neurogenesis
2021 .
Guerra, Gabriela Maria
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May, Doreen
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Kroll, Torsten
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Koch, Philipp
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Groth, Marco
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Wang, Zhao-Qi
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Li, Tangliang
|
Grigaravičius, Paulius
2021
http://purl.org/ontology/bibo/Article
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32
2021 .
Lehmkuhl, Peter
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Gentz, Magdalena
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Garcia de Otezya, Andres Caballero
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Grimbacher, Bodo
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Schulze-Koops, Hendrik
|
Skapenko, Alla
2021
http://purl.org/ontology/bibo/Article
Clonal hematopoiesis and its emerging effects on cellular therapies
2021 .
von Bonin, Malte
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Jambor, Helena
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Teipel, Raphael
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Stölzel, Friedrich
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Thiede, Christian
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Damm, Frederik
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Kroschinsky, Frank
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Schetelig, Johannes
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Chavakis, Triantafyllos
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Bornhauser, Martin
2021
http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
2020 .
Ufartes, Roser
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Berger, Hanna
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Till, Katharina
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Salinas, Gabriela
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Sturm, Marc
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Altmüller, Janine
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Nürnberg, Peter
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Thiele, Holger
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Funke, Rudolf
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Apeshiotis, Neophytos
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Langen, Hendrik
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Wollnik, Bernd
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Borchers, Annette
|
, Silke
2020
http://purl.org/ontology/bibo/Article
Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective
2020 .
Schneider, Toni
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Neumaier, F.
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Hescheler, J.
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Alpdogan, S.
2020
http://purl.org/ontology/bibo/Article
