부산대학교 도서관

Julien Baruteau; Elisabeth Jameson; Andrew A. Morris; Anupam Chakrapani; Saikat Santra; Suresh Vijay; Huriye Kocadag; Clare E. Beesley; Stephanie Grunewald; Elaine Murphy; Maureen Cleary; Helen Mundy; Lara Abulhoul; Alexander Broomfield; Robin Lachmann; Yusof Rahman; Peter H. Robinson; Lesley MacPherson; Katharine Foster; W. Kling Chong; Deborah A. Ridout; Kirsten McKay Bounford; Simon N. Waddington; Philippa B. Mills; Paul Gissen; James E. Davison

J Inherit Metab Dis

Emilia M. Swietlik; Daniel Greene; Na Zhu; Karyn Megy; Marcella Cogliano; Smitha Rajaram; Divya Pandya; Tobias Tilly; Katie A. Lutz; Carrie C.L. Welch; Michael W. Pauciulo; Laura Southgate; Jennifer M. Martin; Carmen M. Treacy; Christopher J. Penkett; Jonathan C. Stephens; Harm J. Bogaard; Colin Church; Gerry Coghlan; Anna W. Coleman; Robin Condliffe; Christina A. Eichstaedt; Mélanie Eyries; Henning Gall; Stefano Ghio; Barbara Girerd; Ekkehard Grünig; Simon Holden; Luke Howard; Marc Humbert; David G. Kiely; Gabor Kovacs; Jim Lordan; Rajiv D. Machado; Robert V. MacKenzie Ross; Colm McCabe; Shahin Moledina; David Montani; Horst Olschewski; Joanna Pepke-Zaba; Laura Price; Christopher J. Rhodes; Werner Seeger; Florent Soubrier; Jay Suntharalingam; Mark R. Toshner; Anton Vonk Noordegraaf; John Wharton; James M. Wild; Stephen John Wort; Allan Lawrie; Martin R. Wilkins; Richard C. Trembath; Yufeng Shen; Wendy K. Chung; Andrew J. Swift; William C. Nichols; Nicholas W. Morrell; Stefan Gräf; Stephen Abbs; Lara Abulhoul; Julian Adlard; Munaza Ahmed; Timothy J. Aitman; Hana Alachkar; David J. Allsup; Philip Ancliff; Richard Antrobus; Ruth Armstrong; Gavin Arno; Sofie Ashford; William J. Astle; Anthony Attwood; Paul Aurora; Christian Babbs; Chiara Bacchelli; Tamam Bakchoul; Siddharth Banka; Tadbir Bariana; Julian Barwell; Joana Batista; Helen E. Baxendale; Phil L. Beales; David L. Bennett; Agnieszka Bierzynska; Tina Biss; Maria A.K. Bitner-Glindzicz; Graeme C. Black; Marta Bleda; Iulia Blesneac; Detlef Bockenhauer; Sara Boyce; John R. Bradley; Gerome Breen; Paul Brennan; Carole Brewer; Matthew Brown; Andrew C. Browning; Michael J. Browning; Rachel J. Buchan; Matthew S. Buckland; Teofila Bueser; Carmen Bugarin Diz; John Burn; Siobhan O. Burns; Oliver S. Burren; Nigel Burrows; Carolyn Campbell; Gerald Carr-White; Keren Carss; Ruth Casey; Mark J. Caulfield; Jenny Chambers; John Chambers; Melanie M.Y. Chan; Floria Cheng; Patrick F. Chinnery; Manali Chitre; Martin T. Christian; Jill Clayton-Smith; Maureen Cleary; Naomi Clements Brod; Elizabeth Colby; Trevor R.P. Cole; Janine Collins; Peter W. Collins; Cecilia J. Compton; H. Terence Cook; Stuart Cook; Nichola Cooper; Paul A. Corris; Nicola S. Curry; Matthew J. Daniels; Mehul Dattani; Louise C. Daugherty; John Davis; Anthony De Soyza; Sri V.V. Deevi; Timothy Dent; Charu Deshpande; Eleanor F. Dewhurst; Peter H. Dixon; Sofia Douzgou; Kate Downes; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; J. David M. Edgar; Karen Edwards; William Egner; Melanie N. Ekani; Perry Elliott; Wendy N. Erber; Marie Erwood; Maria C. Estiu; Dafydd Gareth Evans; Gillian Evans; Tamara Everington; Hiva Fassihi; Remi Favier; Debra Fletcher; Frances A. Flinter; R. Andres Floto; Tom Fowler; James Fox; Amy J. Frary; Courtney E. French; Kathleen Freson; Mattia Frontini; Abigail Furnell; Daniel P. Gale; Vijeya Ganesan; Michael Gattens; Hossein-Ardeschir Ghofrani; J. Simon R. Gibbs; Kate Gibson; Kimberly C. Gilmour; Nicholas S. Gleadall; Sarah Goddard; Keith Gomez; Pavels Gordins; David Gosal; Jodie Graham; Luigi Grassi; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip Griffiths; Sofia Grigoriadou; Detelina Grozeva; Mark Gurnell; Scott Hackett; Charaka Hadinnapola; Rosie Hague; William M. Hague; Matthias Haimel; Matthew Hall; Helen L. Hanson; Eshika Haque; Kirsty Harkness; Andrew R. Harper; Claire L. Harris; Daniel Hart; Ahamad Hassan; Grant Hayman; Alex Henderson; Archana Herwadkar; Jonathan Hoffman; Rita Horvath; Henry Houlden; Arjan C. Houweling; Fengyuan Hu; Gavin Hudson; Aarnoud P. Huissoon; Matthew Hurles; Melita Irving; Louise Izatt; Roger James; Sally A. Johnson; Stephen Jolles; Jennifer Jolley; Dragana Josifova; Neringa Jurkute; Mary A. Kasanicki; Hanadi Kazkaz; Rashid Kazmi; Peter Kelleher; Anne M Kelly; Wilf Kelsall; Carly Kempster; Nathalie Kingston; Nils Koelling; Myrto Kostadima; Ania Koziell; Roman Kreuzhuber; Taco W. Kuijpers; Ajith Kumar; Dinakantha Kumararatne; Manju A. Kurian; Michael A. Laffan; Fiona Lalloo; Michele Lambert; Hana Lango Allen; D. Mark Layton; Claire Lentaigne; Tracy Lester; Adam P. Levine; Rachel Linger; Hilary Longhurst; Lorena E. Lorenzo; Eleni Louka; Paul A. Lyons; Bella Madan; Eamonn R. Maher; Jesmeen Maimaris; Samantha Malka; Sarah Mangles; Rutendo Mapeta; Kevin J. Marchbank; Stephen Marks; Hugh S. Markus; Hanns-Ulrich Marschall; Andrew Marshall; Mary Mathias; Emma Matthews; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Harriet McKinney; Stuart Meacham; Adam J. Mead; Sarju G. Mehta; Michel Michaelides; Carolyn Millar; Shehla N. Mohammed; Anthony T. Moore; Monika Mozere; Keith W. Muir; Andrew D. Mumford; Andrea H. Nemeth; William G. Newman; Michael Newnham; Sadia Noorani; Paquita Nurden; Jennifer O’Sullivan; Samya Obaji; Chris Odhams; Steven Okoli; Andrea Olschewski; Kai Ren Ong; S. Helen Oram; Elizabeth Ormondroyd; Willem H. Ouwehand; Claire Palles; Sofia Papadia; Soo-Mi Park; David Parry; Smita Patel; Joan Paterson; Andrew Peacock; Simon H. Pearce; Kathelijne Peerlinck; Romina Petersen; Clarissa Pilkington; Kenneth E.S. Poole; Bethan Psaila; Angela Pyle; Richard Quinton; Shamima Rahman; Anupama Rao; F. Lucy Raymond; Paula J. Rayner-Matthews; Augusto Rendon; Tara Renton; Andrew S.C. Rice; Alex Richter; Leema Robert; Irene Roberts; Sarah J. Rose; Robert Ross-Russell; Catherine Roughley; Noemi B.A. Roy; Deborah M. Ruddy; Omid Sadeghi-Alavijeh; Moin A. Saleem; Nilesh Samani; Crina Samarghitean; Alba Sanchis-Juan; Ravishankar B. Sargur; Robert N. Sarkany; Simon Satchell; Sinisa Savic; Genevieve Sayer; John A. Sayer; Laura Scelsi; Andrew M. Schaefer; Sol Schulman; Richard Scott; Marie Scully; Claire Searle; Arjune Sen; W.A. Carrock Sewell; Denis Seyres; Neil Shah; Olga Shamardina; Susan E. Shapiro; Adam C. Shaw; Keith Sibson; Lucy Side; Ilenia Simeoni; Michael A. Simpson; Matthew C. Sims; Suthesh Sivapalaratnam; Damian Smedley; Katherine R. Smith; Kenneth G.C. Smith; Katie Snape; Nicole Soranzo; Olivera Spasic-Boskovic; Simon Staines; Emily Staples; Hannah Stark; Kathleen E. Stirrups; Alex Stuckey; Petros Syrris; R. Campbell Tait; Kate Talks; Rhea Y.Y. Tan; Jenny C. Taylor; John M. Taylor; James E. Thaventhiran; Andreas C. Themistocleous; David Thomas; Ellen Thomas; Moira J. Thomas; Patrick Thomas; Kate Thomson; Adrian J. Thrasher; Chantal Thys; Marc Tischkowitz; Catherine Titterton; Cheng-Hock Toh; Ian P. Tomlinson; Matthew Traylor; Paul Treadaway; Salih Tuna; Ernest Turro; Philip Twiss; Tom Vale; Chris Van Geet; Natalie van Zuydam; Anthony M Vandersteen; Marta Vazquez-Lopez; Julie von Ziegenweidt; Annette Wagner; Quinten Waisfisz; Neil Walker; Suellen M. Walker; James S. Ware; Hugh Watkins; Christopher Watt; Andrew R. Webster; Lucy Wedderburn; Wei Wei; Steven B. Welch; Julie Wessels; Sarah K. Westbury; John-Paul Westwood; Deborah Whitehorn; James Whitworth; Andrew O.M. Wilkie; Catherine Williamson; Brian T. Wilson; Edwin K.S. Wong; Nicholas Wood; Yvette Wood; Christopher Geoffrey Woods; Emma R. Woodward; Austen Worth; Michael Wright; Katherine Yates; Patrick F.K. Yong; Timothy Young; Ping Yu; Patrick Yu-Wai-Man; Eliska Zlamalova; Russel Hirsch; R. James White; Marc Simon; David Badesch; Erika Rosenzweig; Charles Burger; Murali Chakinala; Thenappan Thenappan; Greg Elliott; Robert Simms; Harrison Farber; Robert Frantz; Jean Elwing; Nicholas Hill; Dunbar Ivy; James Klinger; Steven Nathan; Ronald Oudiz; Ivan Robbins; Robert Schilz; Terry Fortin; Jeffrey Wilt; Delphine Yung; Eric Austin; Ferhaan Ahmad; Nitin Bhatt; Tim Lahm; Adaani Frost; Zeenat Safdar; Zia Rehman; Robert Walter; Fernando Torres; Sahil Bakshi; Stephen Archer; Rahul Argula; Christopher Barnett; Raymond Benza; Ankit Desai; Veeranna Maddipati

Circ Genom Precis Med
morrell 2021, 'Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155. https://doi.org/10.1161/CIRCGEN.120.003155

Ernest Turro; William J. Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; Oliver S. Burren; Kate Downes; Matthias Haimel; Salih Tuna; Sri V. V. Deevi; Timothy J. Aitman; David L. Bennett; Paul Calleja; Keren Carss; Mark J. Caulfield; Patrick F. Chinnery; Peter H. Dixon; Daniel P. Gale; Roger James; Ania Koziell; Michael A. Laffan; Adam P. Levine; Eamonn R. Maher; Hugh S. Markus; Joannella Morales; Nicholas W. Morrell; Andrew D. Mumford; Elizabeth Ormondroyd; Stuart Rankin; Augusto Rendon; Sylvia Richardson; Irene Roberts; Noemi B. A. Roy; Moin A. Saleem; Kenneth G. C. Smith; Hannah Stark; Rhea Y. Y. Tan; Andreas C. Themistocleous; Adrian J. Thrasher; Hugh Watkins; Andrew R. Webster; Martin R. Wilkins; Catherine Williamson; James Whitworth; Sean Humphray; David R. Bentley; Stephen Abbs; Lara Abulhoul; Julian Adlard; Munaza Ahmed; Hana Alachkar; David J. Allsup; Jeff Almeida-King; Philip Ancliff; Richard Antrobus; Ruth Armstrong; Gavin Arno; Sofie Ashford; Anthony Attwood; Paul Aurora; Christian Babbs; Chiara Bacchelli; Tamam Bakchoul; Siddharth Banka; Tadbir Bariana; Julian Barwell; Joana Batista; Helen E. Baxendale; Phil L. Beales; Agnieszka Bierzynska; Tina Biss; Maria A. K. Bitner-Glindzicz; Graeme C. Black; Marta Bleda; Iulia Blesneac; Detlef Bockenhauer; Harm Bogaard; Christian J. Bourne; Sara Boyce; John R. Bradley; Eugene Bragin; Gerome Breen; Paul Brennan; Carole Brewer; Matthew Brown; Andrew C. Browning; Michael J. Browning; Rachel J. Buchan; Matthew S. Buckland; Teofila Bueser; Carmen Bugarin Diz; John Burn; Siobhan O. Burns; Nigel Burrows; Carolyn Campbell; Gerald Carr-White; Ruth Casey; Jenny Chambers; John Chambers; Melanie M. Y. Chan; Calvin Cheah; Floria Cheng; Manali Chitre; Martin T. Christian; Colin Church; Jill Clayton-Smith; Maureen Cleary; Naomi Clements Brod; Gerry Coghlan; Elizabeth Colby; Trevor R. P. Cole; Janine Collins; Peter W. Collins; Camilla Colombo; Cecilia J. Compton; Robin Condliffe; Stuart Cook; H. Terence Cook; Nichola Cooper; Paul A. Corris; Abigail Furnell; Fiona Cunningham; Nicola S. Curry; Antony J. Cutler; Matthew J. Daniels; Mehul Dattani; Louise C. Daugherty; John Davis; Anthony De Soyza; Timothy Dent; Charu Deshpande; Eleanor F. Dewhurst; Sofia Douzgou; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; J. David M. Edgar; Karen Edwards; William Egner; Melanie N. Ekani; Perry Elliott; Wendy N. Erber; Marie Erwood; Maria C. Estiu; Dafydd Gareth Evans; Gillian Evans; Tamara Everington; Mélanie Eyries; Hiva Fassihi; Remi Favier; Jack Findhammer; Debra Fletcher; Frances A. Flinter; R. Andres Floto; Tom Fowler; James Fox; Amy J. Frary; Courtney E. French; Kathleen Freson; Henning Gall; Vijeya Ganesan; Michael Gattens; Claire Geoghegan; Terence S. A. Gerighty; Ali G. Gharavi; Stefano Ghio; Hossein-Ardeschir Ghofrani; J. Simon R. Gibbs; Kate Gibson; Kimberly C. Gilmour; Barbara Girerd; Nicholas S. Gleadall; Sarah Goddard; David B. Goldstein; Keith Gomez; Pavels Gordins; David Gosal; Jodie Graham; Luigi Grassi; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip Griffiths; Sofia Grigoriadou; Russell J. Grocock; Detelina Grozeva; Mark Gurnell; Scott Hackett; Charaka Hadinnapola; William M. Hague; Rosie Hague; Matthew Hall; Helen L. Hanson; Eshika Haque; Kirsty Harkness; Andrew R. Harper; Claire L. Harris; Daniel Hart; Ahamad Hassan; Grant Hayman; Alex Henderson; Archana Herwadkar; Jonathan Hoffman; Simon Holden; Rita Horvath; Henry Houlden; Arjan C. Houweling; Luke S. Howard; Fengyuan Hu; Gavin Hudson; Joseph Hughes; Aarnoud P. Huissoon; Marc Humbert; Sarah Hunter; Matthew Hurles; Melita Irving; Louise Izatt; Sally A. Johnson; Stephen Jolles; Jennifer Jolley; Dragana Josifova; Neringa Jurkute; Tim Karten; Johannes Karten; Mary A. Kasanicki; Hanadi Kazkaz; Rashid Kazmi; Peter Kelleher; Anne M. Kelly; Wilf Kelsall; Carly Kempster; David G. Kiely; Nathalie Kingston; Robert Klima; Nils Koelling; Myrto Kostadima; Gabor Kovacs; Roman Kreuzhuber; Taco W. Kuijpers; Ajith Kumar; Dinakantha Kumararatne; Manju A. Kurian; Fiona Lalloo; Michele Lambert; Allan Lawrie; D. Mark Layton; Nick Lench; Claire Lentaigne; Tracy Lester; Rachel Linger; Hilary Longhurst; Lorena E. Lorenzo; Eleni Louka; Paul A. Lyons; Rajiv D. Machado; Robert V. MacKenzie Ross; Bella Madan; Jesmeen Maimaris; Samantha Malka; Sarah Mangles; Kevin J. Marchbank; Stephen Marks; Hanns-Ulrich Marschall; Andrew Marshall; Jennifer Martin; Mary Mathias; Emma Matthews; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Harriet McKinney; Aoife McMahon; Stuart Meacham; Adam J. Mead; Ignacio Medina Castello; Sarju G. Mehta; Michel Michaelides; Carolyn Millar; Shehla N. Mohammed; Shahin Moledina; David Montani; Anthony T. Moore; Monika Mozere; Keith W. Muir; Andrea H. Nemeth; William G. Newman; Michael Newnham; Sadia Noorani; Paquita Nurden; Jennifer O’Sullivan; Samya Obaji; Chris Odhams; Steven Okoli; Andrea Olschewski; Horst Olschewski; Kai Ren Ong; S. Helen Oram; Willem H. Ouwehand; Claire Palles; Sofia Papadia; Soo-Mi Park; David Parry; Smita Patel; Joan Paterson; Andrew Peacock; Simon H. Pearce; John Peden; Kathelijne Peerlinck; Christopher J. Penkett; Joanna Pepke-Zaba; Romina Petersen; Clarissa Pilkington; Kenneth E. S. Poole; Radhika Prathalingam; Bethan Psaila; Angela Pyle; Richard Quinton; Shamima Rahman; Anupama Rao; F. Lucy Raymond; Paula J. Rayner-Matthews; Christine Rees; Tara Renton; Christopher J. Rhodes; Andrew S. C. Rice; Alex Richter; Leema Robert; Anthony Rogers; Sarah J. Rose; Robert Ross-Russell; Catherine Roughley; Deborah M. Ruddy; Omid Sadeghi-Alavijeh; Nilesh Samani; Crina Samarghitean; Ravishankar B. Sargur; Robert N. Sarkany; Simon Satchell; Sinisa Savic; John A. Sayer; Genevieve Sayer; Laura Scelsi; Andrew M. Schaefer; Sol Schulman; Richard Scott; Marie Scully; Claire Searle; Werner Seeger; Arjune Sen; W. A. Carrock Sewell; Denis Seyres; Neil Shah; Susan E. Shapiro; Adam C. Shaw; Patrick J. Short; Keith Sibson; Lucy Side; Ilenia Simeoni; Michael A. Simpson; Matthew C. Sims; Suthesh Sivapalaratnam; Damian Smedley; Katherine R. Smith; Katie Snape; Nicole Soranzo; Florent Soubrier; Laura Southgate; Olivera Spasic-Boskovic; Simon Staines; Emily Staples; Charles Steward; Kathleen E. Stirrups; Alex Stuckey; Jay Suntharalingam; Emilia M. Swietlik; Petros Syrris; R. Campbell Tait; Kate Talks; Katie Tate; John M. Taylor; Jenny C. Taylor; James E. Thaventhiran; Ellen Thomas; David Thomas; Moira J. Thomas; Patrick Thomas; Kate Thomson; Glen Threadgold; Tobias Tilly; Marc Tischkowitz; Catherine Titterton; John A. Todd; Cheng-Hock Toh; Bas Tolhuis; Ian P. Tomlinson; Mark Toshner; Matthew Traylor; Carmen Treacy; Paul Treadaway; Richard Trembath; Wojciech Turek; Philip Twiss; Tom Vale; Chris Van Geet; Natalie van Zuydam; Maarten Vandekuilen; Anthony M. Vandersteen; Marta Vazquez-Lopez; Julie von Ziegenweidt; Anton Vonk Noordegraaf; Annette Wagner; Quinten Waisfisz; Suellen M. Walker; Neil Walker; Klaudia Walter; James S. Ware; Christopher Watt; Lucy Wedderburn; Wei Wei; Steven B. Welch; Julie Wessels; Sarah K. Westbury; John-Paul Westwood; John Wharton; Deborah Whitehorn; Andrew O. M. Wilkie; Brian T. Wilson; Edwin K. S. Wong; Nicholas Wood; Yvette Wood; Christopher Geoffrey Woods; Emma R. Woodward; Stephen J. Wort; Austen Worth; Michael Wright; Katherine Yates; Patrick F. K. Yong; Timothy Young; Ping Yu; Patrick Yu-Wai-Man; Eliska Zlamalova

Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Nature

Emma, Glamuzina; Emma, Fettes; Katie, Bainbridge; Victoria, Crook; Niamh, Finnegan; Lara, Abulhoul; Ashok, Vellodi

Journal of Inherited Metabolic Disease. 34:749-754

Nelun, Perera; Lara, Abulhoul; Michael R, Green; R Andrew, Swann

Journal of Infection. 51:E1-E4

Broomfield, Alexander; Sweeney, Mary G.; Woodward, Cathy E.; Fratter, Carl; Morris, Andrew M.; Leonard, James V.; Abulhoul, Lara; Grunewald, Stephanie; Clayton, Peter T.; Hanna, Michael G.; Poulton, Joanna; Rahman, Shamima

Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. May 2015 38(3):445-457

Smedley, Damian; Smith, Katherine R.; Martin, Antonio; Thomas, Ellen A.; McDonagh, Ellen M.; Cipriani, Valentina; Ellingford, Jamie M.; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J.; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R.; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmstrom, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R. Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G.; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Graf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G.; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L. T.; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E.; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Wright, Caroline F.; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A.; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R.; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, Mark; 10000 Genomes Project Pilot

NEW ENGLAND JOURNAL OF MEDICINE; NOV 11 2021, 385 20, p1868-p1880, 13p.

Ferdinandusse, Sacha; Waterham, Hans R; Heales, Simon JR; Brown, Garry K; Hargreaves, Iain P; Taanman, Jan-Willem; Gunny, Roxana; Abulhoul, Lara; Wanders, Ronald JA; Clayton, Peter T; Leonard, James V; Rahman, Shamima

Orphanet Journal of Rare Diseases. December 4, 2013, Vol. 8

Perera, Nelun; Abulhoul, Lara; Green, Michael R.; Swann, R. Andrew

Journal of Infection. August, 2005, Vol. 51 Issue 2, pE1

Wendy E. Heywood; Stephane Camuzeaux; James McCormick; Peter Clayton; Stephanie S. Grunewald; Maureen Cleary; Emma Footitt; Lara Abulhoul; Ashok Vellodi; Paul Gissen; Simon Heales; Derek Burke; Kevin A. Mills

Molecular Genetics and Metabolism. 114:S54-S55

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Molecular Genetics and Metabolism. 114:S32-S33

Alexander A. Broomfield; Niamh Finnegan; Lara Abulhoul; Maureen Cleary

Molecular Genetics and Metabolism. 111:S27-S28

Wei, Wei; Tuna, Salih; Keogh, Michael J.; Smith, Katherine R.; Aitman, Timothy J.; Beales, Phil L.; Bennett, David L.; Gale, Daniel P.; Bitner-Glindzicz, Maria A. K.; Black, Graeme C.; Brennan, Paul; Elliott, Perry; Flinter, Frances A.; Floto, R. Andres; Houlden, Henry; Irving, Melita; Koziell, Ania; Maher, Eamonn R.; Markus, Hugh S.; Morrell, Nicholas W.; Newman, William G.; Roberts, Irene; Sayer, John A.; Smith, Kenneth G. C.; Taylor, Jenny C.; Watkins, Hugh; Webster, Andrew R.; Wilkie, Andrew O. M.; Williamson, Catherine; Attwood, Anthony; Brown, Matthew; Brod, Naomi Clements; Crisp-Hihn, Abigail; Davis, John; Deevi, Sri V. V.; Dewhurst, Eleanor F.; Edwards, Karen; Erwood, Marie; Fox, James; Frary, Amy J.; Hu, Fengyuan; Jolley, Jennifer; Kingston, Nathalie; Linger, Rachel; Mapeta, Rutendo; Martin, Jennifer; Meacham, Stuart; Papadia, Sofia; Rayner-Matthews, Paula J.; Samarghitean, Crina; Shamardina, Olga; Simeoni, Ilenia; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Titterton, Catherine; von Ziegenweidt, Julie; Watt, Christopher; Whitehorn, Deborah; Wood, Yvette; Yates, Katherine; Yu, Ping; James, Roger; Ashford, Sofie; Penkett, Christopher J.; Stirrups, Kathleen E.; Bariana, Tadbir; Lentaigne, Claire; Sivapalaratnam, Suthesh; Westbury, Sarah K.; Allsup, David J.; Bakchoul, Tamam; Biss, Tina; Boyce, Sara; Collins, Janine; Collins, Peter W.; Curry, Nicola S.; Downes, Kate; Dutt, Tina; Erber, Wendy N.; Evans, Gillian; Everington, Tamara; Favier, Remi; Gomez, Keith; Greene, Daniel; Gresele, Paolo; Hart, Daniel; Kazmi, Rashid; Kelly, Anne M.; Lambert, Michele; Madan, Bella; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Obaji, Samya; Peerlinck, Kathelijne; Roughley, Catherine; Schulman, Sol; Scully, Marie; Shapiro, Susan E.; Sibson, Keith; Sims, Matthew C.; Tait, R. Campbell; Talks, Kate; Thys, Chantal; Toh, Cheng-Hock; Van Geet, Chris; Westwood, John-Paul; Mumford, Andrew D.; Ouwehand, Willem H.; Freson, Kathleen; Laffan, Michael A.; Tan, Rhea Y. Y.; Harkness, Kirsty; Mehta, Sarju; Muir, Keith W.; Hassan, Ahamad; Traylor, Matthew; Drazyk, Anna M.; Parry, David; Ahmed, Munaza; Kazkaz, Hanadi; Vandersteen, Anthony M.; Ormondroyd, Elizabeth; Thomson, Kate; Dent, Timothy; Buchan, Rachel J.; Bueser, Teofila; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew J.; Harper, Andrew R.; Ware, James S.; Dixon, Peter H.; Chambers, Jenny; Cheng, Floria; Estiu, Maria C.; Hague, William M.; Marschall, Hanns-Ulrich; Vazquez-Lopez, Marta; Arno, Gavin; French, Courtney E.; Michaelides, Michel; Moore, Anthony T.; Sanchis-Juan, Alba; Carss, Keren; Raymond, F. Lucy; Chinnery, Patrick F.; Griffiths, Philip; Horvath, Rita; Hudson, Gavin; Jurkute, Neringa; Pyle, Angela; Yu-Wai-Man, Patrick; Whitworth, James; Adlard, Julian; Armstrong, Ruth; Brewer, Carole; Casey, Ruth; Cole, Trevor R. P.; Evans, Dafydd Gareth; Greenhalgh, Lynn; Hanson, Helen L.; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Ong, Kai Ren; Park, Soo-Mi; Searle, Claire; Side, Lucy; Snape, Katie; Woodward, Emma; Tischkowitz, Marc; Grozeva, Detelina; Kurian, Manju A.; Themistocleous, Andreas C.; Gosal, David; Marshall, Andrew; Matthews, Emma; McCarthy, Mark I.; Renton, Tara; Rice, Andrew S. C.; Vale, Tom; Walker, Suellen M.; Woods, Christopher Geoffrey; Thaventhiran, James E.; Allen, Hana Lango; Savic, Sinisa; Alachkar, Hana; Antrobus, Richard; Baxendale, Helen E.; Browning, Michael J.; Buckland, Matthew S.; Cooper, Nichola; Edgar, J. David M.; Egner, William; Gilmour, Kimberly C.; Goddard, Sarah; Gordins, Pavels; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud P.; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Longhurst, Hilary; Lorenzo, Lorena E.; Lyons, Paul A.; Maimaris, Jesmeen; Noorani, Sadia; Richter, Alex; Sargur, Ravishankar B.; Sewell, W. A. Carrock; Thomas, David; Thomas, Moira J.; Worth, Austen; Yong, Patrick F. K.; Kuijpers, Taco W.; Thrasher, Adrian J.; Levine, Adam P.; Sadeghi-Alavijeh, Omid; Wong, Edwin K. S.; Cook, H. Terence; Chan, Melanie M. Y.; Hall, Matthew; Harris, Claire; McAlinden, Paul; Marchbank, Kevin J.; Marks, Stephen; Maxwell, Heather; Mozere, Monika; Wessels, Julie; Johnson, Sally A.; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Swietlik, Emilia; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Holden, Simon; Houweling, Arjan; Howard, Luke S.; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew; Pepke-Zaba, Joanna; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Wharton, John; Wilkins, Martin R.; Wort, Stephen J.; Graf, Stefan; Louka, Eleni; Roy, Noemi B.; Rao, Anupama; Ancliff, Philip; Babbs, Christian; Layton, D. Mark; Mead, Adam J.; O'Sullivan, Jennifer; Okoli, Steven; Saleem, Moin; Bierzynska, Agnieszka; Diz, Carmen Bugarin; Colby, Elizabeth; Ekani, Melanie N.; Satchell, Simon; Fowler, Tom; Rendon, Augusto; Scott, Richard; Smedley, Damian; Thomas, Ellen; Caulfield, Mark; Abbs, Stephen; Burrows, Nigel; Chitre, Manali; Gattens, Michael; Gurnell, Mark; Kelsall, Wilf; Poole, Ken E. S.; Ross-Russell, Robert; Spasic-Boskovic, Olivera; Twiss, Philip; Wagner, Annette; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Cleary, Maureen; Dattani, Mehul; Ganesan, Vijeya; Pilkington, Clarissa; Rahman, Shamima; Shah, Neil; Wedderburn, Lucy; Compton, Cecilia J.; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Josifova, Dragana; Mohammed, Shehla N.; Robert, Leema; Rose, Sarah J.; Ruddy, Deborah M.; Sarkany, Robert N.; Sayer, Genevieve; Shaw, Adam C.; Campbell, Carolyn; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Patel, Smita; Sen, Arjune; Taylor, John; Tomlinson, Ian P.; Malka, Samantha; Browning, Andrew C.; Burn, John; De Soyza, Anthony; Graham, Jodie; Pearce, Simon; Quinton, Richard; Schaefer, Andrew M.; Wilson, Brian T.; Wright, Michael; Simpson, Michael; Syrris, Petros; Bradley, John R.; Turro, Ernest; NIHR BioResource-Rare Dis; 100000 Genomes Project-Rare Dis

SCIENCE; MAY 24 2019, 364 6442, p749-p+, 59p.

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