American Journal of Human Genetics 2007 William Reardon - Abstracts
| American Journal of Human Genetics 2007 William Reardon | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. | Biological sciences | Michel Goossens, William Reardon, Annick Toutain, Jeanne Amiel, Laure Stanchina, Viviane Baral, Veronique Pingault, Nadege Bondurand, Pierre Sarda, Tania Attie-Bitach, Florence Dastot-Le Moal, Nathalie Collot, Sandrine Marlin, Irina Giurgea, Laurent Skopinski, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine | |||
| Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. | Biological sciences | William Reardon, Andrea Ballabio, Peter J. Milla, Annagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, Gabriella Cotugno, Alfredo Ciccodicola, Alberto Auricchio | |||
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). | Biological sciences | William Reardon, Koen Devriendt, Monika Cohen, Raoul C.M. Hennekam, Armand Bottani, Christiane Zweier, Anita Rauch, Peter Nurnberg, Andre Reis, Maaarit M. Peippo, Juliane Hoyer, Sergio Sousa, Jill Clayton-Smith, Jorge Saraiva, Alexandra Cabral, Ina Gohring, Thomy de Ravel, Emilia K. Bijlsma, Alfredo Orrico, Alexander Dreweke | |||
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.