Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- Creator: Francis, David I. , Stark, Zornitza , Krzesinski, Emma I. , Vasudevan, Anand , Oertel, Ralph , Petrovic, Vida , Boys, Amber , Wei, Vivian , Burgess, Trent , Dun, Karen , Oliver, Karen L. , Baxter, Anne , Scheffer, Ingrid E. , Hackett, Anna , Ayres, S , Lunke, S , Kalitsis, P , Wall, M , Tan, Tiong Yang , Murali, Krithika , Gallacher, Lyndon , Amor, David J. , Goel, Himanshu , Downie, Lilian , Stutterd, Chloe A.
- Resource Type: journal article
- Date: 2023
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
- Creator: Eggers, Stefanie , Sadedin, Simon , Cameron, Fergus , Werther, George , Hutson, John , O'Connell, Michele , Grover, Sonia R. , Heloury, Yves , Zacharin, Margaret , Bergman, Philip , Kimber, Chris , Brown, Justin , van den Bergen, Jocelyn A. , Webb, Nathalie , Hunter, Matthew F. , Srinivasan, Shubha , Titmuss, Angela , Verge, Charles F. , Mowat, David , Smith, Grahame , Smith, Janine , Ewans, Lisa , Shalhoub, Carolyn , Robevska, Gorjana , Crock, Patricia , Cowell, Chris , Leong, Gary M. , Ono, Makato , Lafferty, Antony R. , Huynh, Tony , Visser, Uma , Choong, Catherine S. , McKenzie, Fiona , Pachter, Nicholas , Ohnesorg, Thomas , Thompson, Elizabeth M. , Couper, Jennifer , Baxendale, Anne , Gecz, Jozef , Wheeler, Benjamin J. , Jefferies, Craig , MacKenzie, Karen , Hofman, Paul , Carter, Philippa , King, Richard I. , Hewitt, Jacqueline , Krausz, Csilla , van Ravenswaaij-Arts, Conny M. A. , Looijenga, Leendert , Drop, Sten , Riedl, Stefan , Cools, Martine , Dawson, Angelika , Juniarto, Achmad Zulfa , Khadilkar, Vaman , Khadilkar, Anuradha , Lambeth, Luke , Bhatia, Vijayalakshmi , Dũng, Vũ Chí , Atta, Irum , Raza, Jamal , thi Diem Chi, Nguyen , Hao, Tran Kiem , Harley, Vincent , Koopman, Peter , Warne, Garry , Faradz, Sultana , Bouty, Aurore , Oshlack, Alicia , Ayers, Katie L. , Sinclair, Andrew H. , Knarston, Ingred M. , Tan, Tiong Yang
- Resource Type: journal article
- Date: 2016