Genotype-phenotype correlation

  • FOXP1-related intellectual disability syndrome: a recognisable entity
    Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy JL de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
  • Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
    Adam Hexter, Adrian Jones, Harry Joe, Laura Heap, Miriam J Smith, Andrew J Wallace, Dorothy Halliday, Allyson Parry, Amy Taylor, Lucy Raymond, Adam Shaw, Shazia Afridi, Rupert Obholzer, Patrick Axon, Andrew T King, The English Specialist NF2 Research Group, Jan M Friedman, D Gareth R Evans
  • Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
    Marta K Danecka, Mathias Woidy, Johannes Zschocke, François Feillet, Ania C Muntau, Søren W Gersting