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Epilepsia, ISSN 0013-9580, 12/2015, Volume 56, Issue 12, pp. 1931 - 1940
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 80
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 7, pp. E1564 - E1573
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2015, Volume 80, pp. 80 - 92
Journal Article
Journal Article
Neurophysiologie Clinique / Clinical Neurophysiology, ISSN 0987-7053, 2017, Volume 47, Issue 3, pp. 191 - 191
Nous rapportant les observations de 2 frères décédés avant 6 semaines de vie d’une encéphalopathie infantile épileptique précoce. Les enfants, issus d’un... 
Neurology | Suppression-burst | Encéphalopathie infantile épileptique précoce | Hypertonie
Journal Article
Neurophysiologie Clinique = Clinical Neurophysiology, ISSN 0987-7053, 06/2017, Volume 47, Issue 3, p. 191
Journal Article
Human Mutation, ISSN 1059-7794, 09/2011, Volume 32, Issue 9, pp. 1046 - 1052
Journal Article
Human Mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 7
Autosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate... 
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
Neurophysiologie Clinique / Clinical Neurophysiology, ISSN 0987-7053, 06/2017, Volume 47, Issue 3, p. 191
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.neucli.2017.05.016 La... 
Journal Article
Neurophysiologie Clinique / Clinical Neurophysiology, ISSN 0987-7053, 06/2017, Volume 47, Issue 3, p. 191
Nous rapportant les observations de 2 freres decedes avant 6 semaines de vie d'une encephalopathie infantile epileptique precoce. Les enfants, issus d'un... 
Journal Article
Journal Article
Journal Article
Historia Critica, ISSN 0121-1617, 2013, Issue 50, pp. 183 - 210
  Espacios de enunciación política y apuestas del Grupo Memoria Histórica Seis años después de la creación de la Ley de Justicia y Paz (975 de 2005) -que dio... 
Political culture | Armed conflict | Political violence | Memory | Subjectivity | Policy creation | History | Latin music
Journal Article