Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
澳大利亚首个以成人为中心的未确诊疾病项目(AHA-UDP)的经验:解决罕见且令人困惑的遗传疾病不分年龄
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03297-5
Wallis, Mathew; Bodek, Simon D; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y; John, Tom; Mullen, Saul; White, Susan M; Brown, Natasha J; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F