Rapid rare disease diagnosis on a national scale: an integrated multi-omic approach
Sebastian Lunke, Sophie Bouffler,Chirag Patel,Sarah Sandaradura,Meredith Wilson,Jason Pinner,Matthew Hunter,Christopher P. Barnett,Mathew Wallis,Benjamin Kamien,Mary-Louise Freckmann,Tiong Yang Tan,David Francis,Belinda Chong,Dean Phelan,Karin Kassahn,Thuong Ha, Song Gao,Stefanie Eggers,Simon Sadedin,Kirsten Boggs, Ana Rakonjac,Gemma Brett,Michelle De Silva,Amanda Springer,Michelle Ward, Kirsty Stallard,Cas Simons,Thomas Conway,Katrina Bell,Andreas Halman,Alison Compton,David Thorburn,John Christodoulou,Zornitza Stark EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
AI 理解论文
溯源树
样例