نتائج البحث - Sabine Defoort‐Dhellemmes

  • يعرض 1 - 8 نتائج من 8
تنقيح النتائج
  1. 1
    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype حسب Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, S. Gerber, Jean‐Louis Dufier, Olivier Roche, Sabine Defoort‐Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    منشور في 2007
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

    LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells حسب Camille Sollier, Émilie Capel, C. Aguilhon, Vasily Smirnov, Martine Auclair, Claire Douillard, Miriam Ladsous, Sabine Defoort‐Dhellemmes, Jennifer Gorwood, Laura Braud, Roberto Motterlini, Camille Vatier, Olivier Lascols, Éric Renard, Corinne Vigouroux, Isabelle Jéru

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort

    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort حسب Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Saïd El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort‐Dhellemmes, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz

    منشور في 2021
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

    Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy حسب Majida Charif, Arnaud Chevrollier, Naïg Guéguen, Céline Bris, David Goudenège, Valérie Desquiret‐Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort‐Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkutė, Patrick Yu‐Wai‐Man, Fabrizio Tagliavini, Leonardo Caporali, Chiara La Morgia, Valério Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati‐Bonneau, Guy Lenaers

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

    TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness حسب Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand‐Saïd, Kinga M. Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova‐Doumanova, Marie‐Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort‐Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

    منشور في 2009
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness حسب Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Tom Wright, Shuning Li, Christelle Michiels, Christel Condroyer, H. Robson MacDonald, R Verdet, José‐Alain Sahel, Christian Hamel, Christina Zeitz, Elise Héon, Eyal Banin, Béatrice Bocquet, Elfride De Baere, Ingele Casteels, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Christoph Friedburg, Irène Gottlob, Samuel G. Jacobson, Ulrich Kellner, Robert K. Koenekoop, Susanne Kohl, Bart P. Leroy, Birgit Lorenz, Rebecca J. McLean, Françoise Meire, Isabelle Meunier, Francis L. Munier, Thomy de Ravel, Charlotte Reiff, Saddek Mohand‐Saïd, Dror Sharon, Daniel F. Schorderet, Sharon Schwartz, Xavier Zanlonghi

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands حسب Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau

    منشور في 2022
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

    Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness حسب Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

    منشور في 2012
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: