Table of contents

March 2020 - Volume 57 - 3

Clinical guidelines

Genotype-phenotype correlations

Diagnostics

  • Original research: Increasing knowledge in IGF1R defects: lessons from 35 new patients (5 October, 2019)
    Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Walid Abi Habib, Salah Azzi, Bich Lam, Laurence Bérard, Hélène Bony-Trifunovic, Cécile Brachet, Elise Brischoux-Boucher, Emmanuelle Caldagues, Regis Coutant, Marie-Laure Cuvelier, Georges Gelwane, Isabelle Guemas, Muriel Houang, Bertrand Isidor, Claire Jeandel, James Lespinasse, Catherine Naud-Saudreau, Monique Jesuran-Perelroizen, Laurence Perrin, Juliette Piard, Claire Sechter, Pierre-François Souchon, Caroline Storey, Domitille Thomas, Yves Le Bouc, Sylvie Rossignol, Irène Netchine, Frédéric Brioude
  • Original research: Genetic aetiology of early infant deaths in a neonatal intensive care unit (9 September, 2019)
    Lin Yang, Xu Liu, Zixiu Li, Peng Zhang, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Laishuan Wang, Wenhao Zhou

Neurogenetics

Gametes

Novel disease loci

Cancer genetics

Somatic mosaicism