Ngā hua rapu - Catherine Fielden

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome mā Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta