Arama Sonuçları - Marie‐Thérèse Abi‐Warde

  • Gösterilen 1 - 6 sonuçlar arası kayıtlar. 6
Sonuçları Daraltın
  1. 1
    Treatment of new onset refractory status epilepticus/febrile infection‐related epilepsy syndrome with tocilizumab in a child and a young adult

    Treatment of new onset refractory status epilepticus/febrile infection‐related epilepsy syndrome with tocilizumab in a child and a young adult Yazar: Marie‐Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie‐Thérèse Abi Wardé, Véronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne de Saint Martin

    Baskı/Yayın Bilgisi 2023
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  2. 2
    Acid sphingomyelinase deficiency in France: a retrospective survival study

    Acid sphingomyelinase deficiency in France: a retrospective survival study Yazar: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Y. Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, Marie‐Thérèse Abi‐Warde, Marc Berger, E. Berthoux, Aurélie Cabannes‐Hamy, Fabrice Camou, P. Cathébras, Vincent Grobost, Jérémy Keraen, Alice Kuster, Bertrand Lioger, Anas Mehdaoui, C. Merlot, Martin Michaud, Martine-Louise Reynaud-Gaubert, F. Schlemmer, Amélie Servettaz, Chloé Stavris, S. Trouillier

    Baskı/Yayın Bilgisi 2024
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  3. 3
    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</sc... Yazar: Pierre‐Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise F. Porter, Caroline Perriard, Marie‐Thérèse Abi Wardé, Marie‐Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothée Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis‐Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gérard, Julietta de Bellescize, Laurent Villard, Anne de Saint Martin, Mathieu Milh

    Baskı/Yayın Bilgisi 2022
    Tam Metin Erişim
    Revisão
    Favorilerime ekle
    Kaydedildi:
  4. 4
    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy

    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy Yazar: Iris Lange, Katherine L. Helbig, Sarah Weckhuysen, Rikke S. Møller, Milen Velinov, Natalia Dolzhanskaya, Eric D. Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T. Myers, Wim Van Paesschen, Pasquale Striano, Koen L.I. van Gassen, Marjan van Kempen, Carolien G. F. de Kovel, Juliette Piard, Berge A. Minassian, Marjan M. Nezarati, André Luiz Santos Pessoa, Aurélia Jacquette, Bridget H. Maher, Simona Balestrini, Sanjay M. Sisodiya, Marie Thérèse Abi Warde, Anne de Saint Martin, Jamel Chelly, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H. Brilstra, Bobby P. C. Koeleman

    Baskı/Yayın Bilgisi 2016
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  5. 5
    Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Yazar: Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Monique G.M. de Sain-van der Velde, Judith Jans, Jeanne Amiel, Žiga Avsec, Christian Mertes, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis‐Flucklinger

    Baskı/Yayın Bilgisi 2016
    Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:
  6. 6
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations Yazar: Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Baskı/Yayın Bilgisi 2018
    Tam Metin Erişim Tam Metin Erişim
    Artigo
    Favorilerime ekle
    Kaydedildi:

Arama Araçları: