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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype
by
Vuillaume, Marie‐Laure
,
Jeanne, Médéric
,
Xue, Li
,
Blesson, Sophie
,
Denommé‐Pichon, Anne‐Sophie
,
Alirol, Servane
,
Brulard, Céline
,
Colin, Estelle
,
Isidor, Bertrand
,
Gilbert‐Dussardier, Brigitte
,
Odent, Sylvie
,
Parent, Philippe
,
Donnart, Audrey
,
Redon, Richard
,
Bézieau, Stéphane
,
Rondard, Philippe
,
Laumonnier, Frédéric
,
Toutain, Annick
Published in
Annals of neurology
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
by
Hirata, Hiromi
,
Nanda, Indrajit
,
van Riesen, Anne
,
McMichael, Gai
,
Hu, Hao
,
Hambrock, Melanie
,
Papon, Marie-Amélie
,
Fischer, Ute
,
Marouillat, Sylviane
,
Ding, Can
,
Alirol, Servane
,
Bienek, Melanie
,
Preisler-Adams, Sabine
,
Grimme, Astrid
,
Seelow, Dominik
,
Webster, Richard
,
Haan, Eric
,
MacLennan, Alastair
,
Stenzel, Werner
,
Yap, Tzu Ying
,
Gardner, Alison
,
Nguyen, Lam Son
,
Shaw, Marie
,
Lebrun, Nicolas
,
Haas, Stefan A.
,
Kress, Wolfram
,
Haaf, Thomas
,
Schellenberger, Elke
,
Chelly, Jamel
,
Viot, Géraldine
,
Shaffer, Lisa G.
,
Rosenfeld, Jill A.
,
Kramer, Nancy
,
Falk, Rena
,
El-Khechen, Dima
,
Escobar, Luis F.
,
Hennekam, Raoul
,
Wieacker, Peter
,
Hübner, Christoph
,
Ropers, Hans-Hilger
,
Gecz, Jozef
,
Schuelke, Markus
,
Laumonnier, Frédéric
,
Kalscheuer, Vera M.
Published in
American journal of human genetics
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