The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience

por Hart, Caroline, McNulty, Jenny, Cotter, Melanie, Al Jasmi, Fatima, Crushell, Ellen, Monavari, Ahmad Ardeshir
Publicado 2021

Fontaine progeroid syndrome—A case report

por Lally, Sinéad, Walsh, Nicola, Kenny, Janna, Franklin, Orla, Cotter, Melanie, Richardson, Sarah, McEligott, Fiona, Finan, Alan
Publicado 2022

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

por Marx, David, Dupuis, Arnaud, Eckly, Anita, Molitor, Anne, Olagne, Jérôme, Touchard, Guy, Kaaki, Sihem, Ory, Cécile, Faller, Anne-Laure, Gérard, Bénédicte, Cotter, Melanie, Westerberg, Lisa, Keszei, Marton, Moulin, Bruno, Gachet, Christian, Caillard, Sophie, Bahram, Seiamak, Carapito, Raphaël
Publicado 2022