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 TitleAuthors / EditorsDate
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A 19-month-old boy with refractory cervical adenitis Schneider, Anaïs; Ranza, Emmanuelle Nathalie; Diana, Alessandro; Laurent, Meryle; ... Blanchard Rohner, Géraldine 2019
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A triad of infantile spasms, nystagmus and a focal tonic seizure Garcia Tarodo, Stephanie; Nguyen, Thu; Ranza, Emmanuelle Nathalie; Vulliemoz, Serge; Korff, Christian 2018
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Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma Baleydier, Frederic; Ranza, Emmanuelle Nathalie; Schäppi, Michela; Rougemont-Pidoux, Anne-Laure; ... Blanchard Rohner, Géraldine 2018
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report Kurian, Mary; Korff, Christian; Ranza, Emmanuelle Nathalie; Bernasconi, Andrea; ... Bast, Thomas 2018
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Génétique des troubles auditifs chez l’enfant Giacobino, Ariane; Ranza, Emmanuelle Nathalie; Abramowicz, Marc; Senn, Pascal; Cao Van, Hélène 2019
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Ranza, Emmanuelle Nathalie; Korff, Christian 2017
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Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase Luczkowska, Karolina; Stekelenburg, Caroline; Sloan Bena, Frédérique; Ranza, Emmanuelle Nathalie; ... Maechler, Pierre 2020
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Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation Zimmern, Vincent; Riant, Florence; Roze, Emmanuel; Ranza, Emmanuelle Nathalie; ... Korff, Christian 2019
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Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas Ranza, Emmanuelle Nathalie 2017
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Maladie de Rendu-Osler-Weber : importance d’une prise en charge multidisciplinaire Boehlen, Françoise; Landis, Basile Nicolas; Spahr, Laurent François Joséph; Hachulla-Lemaire, Anne-Lise; ... Noble, Stéphane Laurent 2016
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation Nicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit 2016
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Ansar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos 2020