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XB--6030742
Papers associated with gabrb3
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Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE, GABRB2 Working Group., Ann Neurol. March 1, 2021; 89 (3): 573-586. |
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Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies., Absalom NL, Liao VWY, Kothur K, Indurthi DC, Bennetts B, Troedson C, Mohammad SS, Gupta S, McGregor IS, Bowen MT, Lederer D, Mary S, De Waele L, Jansen K, Gill D, Kurian MA, McTague A, Møller RS, Ahring PK, Dale RC, Chebib M., Brain Commun. January 1, 2020; 2 (2): fcaa162. |
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S., Neurology. January 31, 2017; 88 (5): 483-492. |
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Functional characterization of the new human GABA(A) receptor mutation beta3(R192H)., Buhr A, Bianchi MT, Baur R, Courtet P, Pignay V, Boulenger JP, Gallati S, Hinkle DJ, Macdonald RL, Sigel E., Hum Genet. August 1, 2002; 111 (2): 154-60. |
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