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Journal of Experimental Medicine, ISSN 0022-1007, 05/2017, Volume 214, Issue 5, pp. 1547 - 1555
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2017, Volume 54, Issue 12, pp. 843 - 851
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1713 - 1730
Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic variants of ataxia‐telangiectasia mutated (ATM). This disease is... 
checkpoint | phenotype | mutation | ataxia‐telangiectasia | ataxia‐telangiectasia mutated (ATM) | splice | Pathogenicity | Phosphorylation | Phenotypes | Radiosensitivity | Transcription | Genotoxicity | Lymphoblastoid cell lines | Classification | Ataxia | Lymphocytes T | Localization | Hereditary diseases
Journal Article
Journal Article
by Panagiotakaki, Eleni and De Grandis, Elisa and Stagnaro, Michela and Heinzen, Erin L and Fons, Carmen and Sisodiya, Sanjay and De Vries, Boukje and Goubau, Christophe and Weckhuysen, Sarah and Kemlink, David and Scheffer, Ingrid and Lesca, Gaëtan and Rabilloud, Muriel and Klich, Amna and Ramirez-Camacho, Alia and Ulate-Campos, Adriana and Campistol, Jaume and Giannotta, Melania and Moutard, Marie-Laure and Doummar, Diane and Hubsch-Bonneaud, Cecile and Jaffer, Fatima and Cross, Helen and Gurrieri, Fiorella and Tiziano, Danilo and Nevsimalova, Sona and Nicole, Sophie and Neville, Brian and Van Den Maagdenberg, Arn M. J. M and Mikati, Mohamad and Goldstein, David B and Vavassori, Rosaria and Arzimanoglou, Alexis and Bassi, Maria Teresa and Borgatti, Renato and Cernetti, Roberta and Di Rosa, Gabriella and Franchini, Filippo and Gambardella, Antonio and Giacanelli, Manlio and Gobbi, Giuseppe and Granata, Tiziana and Guerrini, Renzo and Incorpora, Gemma and Nardocci, Nardo and Neri, Giovanni and Ragona, Francesca and Santucci, Margherita and Sartori, Stefano and Veneselli, Edvige and Vigevano, Federico and Zucca, Claudio and Aicardi, J and An, I and Arbues, A.S and Arzimanoglou, A and Bahi-Buisson, N and Barthez, M.-A and Billette de Villemeur, T and Bourgeois, M and Bru, M and Chabrol, B and Chaigne, D and Chaunu, M.P and Chaunu, C and Cournelle, A.M and Davoine, C.-S and De St Martin, A and Deny, B and Desguerres, I and Des Portes, V and Doummar, D and Dulac, O and Dusser, A and Gerard, M and Gitiaux, C and Godet Kiesel, I and Gokben, S and Goutieres, F and Guerrin, M.-H and Heron-Longe, B and Hubsch-Bonneaud, C and Hully, M and Husson, M and Husson, Ch and Kaminska, A and Laroche, C and Lazaro, L and Lepine, A and Magy, L and Marchal, C and Michel, J and Milh, M and Motte, J and Moutard, M.L and Napuri, S and Nassogne, M.C and Neau, J.P and Nicole, S and Panagiotakaki, Eleni and ... and IBAHC Consortium and French AHC Consortium and Int AHC Consortium and International AHC Consortium and Italian IBAHC Consortium and The French AHC Consortium and The Italian IBAHC Consortium and The International AHC Consortium
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1, p. 123
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1676 - 1700
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 9, pp. 443 - 454
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 2/2019, Volume 39, Issue 2, pp. 171 - 181
Journal Article
neurogenetics, ISSN 1364-6745, 1/2017, Volume 18, Issue 1, pp. 23 - 28
Journal Article