Open access

  • Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy
    David G Warnock, Christie P Thomas, Bojan Vujkovac, Ruth C Campbell, Joel Charrow, Dawn A Laney, Leslie L Jackson, William R Wilcox, Christoph Wanner
  • A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
    Megana K Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michael Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, Dominique Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller-Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean-Luc Davideau, Tiphaine Davit-Beal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean-Pierre Duprez, Sylvie Odent, Isabelle Bailleul-Forestier, Monique Marie Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, Sylvie Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel de la Dure Molla, Yves Alembik, Corinne Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, Marie Cécile Manière, Hélène Dollfus, Agnès Bloch-Zupan
  • New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
    D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, M Abitbol
  • Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
    Rachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, Parry Guilford, David Huntsman, Nicoline Hoogerbrugge, Carlos Caldas, Karen E Chelcun Schreiber, Richard H Hardwick, Margreet G E M Ausems, Linda Bardram, Patrick R Benusiglio, Tanya M Bisseling, Vanessa Blair, Eveline Bleiker, Alex Boussioutas, Annemieke Cats, Daniel Coit, Lynn DeGregorio, Joana Figueiredo, James M Ford, Esther Heijkoop, Rosella Hermens, Bostjan Humar, Pardeep Kaurah, Gisella Keller, Jennifer Lai, Marjolijn J L Ligtenberg, Maria O'Donovan, Carla Oliveira, Hugo Pinheiro, Krish Ragunath, Esther Rasenberg, Susan Richardson, Franco Roviello, Hans Schackert, Raquel Seruca, Amy Taylor, Anouk ter Huurne, Marc Tischkowitz, Sheena Tjon A Joe, Benjamin van Dijck, Nicole C T van Grieken, Richard van Hillegersberg, Johanna W van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald
  • Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
    Mark E Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud, Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda
  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz

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