학술논문
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'학술논문'
에서 검색결과 76건 | 목록
1~20
Academic Journal
Food Science and Biotechnology, 19(3), pp.777-784 Jun, 2010
Academic Journal
Michelle Peter; Rhiannon Mellis; Hannah McInnes-Dean; Morgan Daniel; Holly Walton; Jane Fisher; Kerry Leeson-Beevers; Stephanie Allen; Emma L. Baple; Ana Beleza-Meireles; Marta Bertoli; Jennifer Campbell; Natalie Canham; Deirdre Cilliers; Jan Cobben; Jacqueline Eason; Victoria Harrison; Muriel Holder-Espinasse; Alison Male; Sahar Mansour; Alec McEwan; Soo-Mi Park; Audrey Smith; Alison Stewart; Dagmar Tapon; Pradeep Vasudevan; Denise Williams; Wing Han Wu; Lyn S. Chitty; Melissa Hill
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Case Reports in Genetics, Vol 2024 (2024)
Academic Journal
Seong Keat Cheah; Chad Ramese Bisambar; Deborah Pitfield; Olivier Giger; Rogier ten Hoopen; Jose-Ezequiel Martin; Graeme R Clark; Soo-Mi Park; Craig Parkinson; Benjamin G Challis; Ruth T Casey
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2021)
Academic Journal
Satyanarayana V Sagi; Hareesh Joshi; Jamie Trotman; Terence Elsey; Ashwini Swamy; Jeyanthy Rajkanna; Nazir A Bhat; Firas J S Haddadin; Samson O Oyibo; Soo-Mi Park
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2020)
Academic Journal
Courtney E. French; Helen Dolling; Karyn Mégy; Alba Sanchis-Juan; Ajay Kumar; Isabelle Delon; Matthew Wakeling; Lucy Mallin; Shruti Agrawal; Topun Austin; Florence Walston; Soo-Mi Park; Alasdair Parker; Chinthika Piyasena; Kimberley Bradbury; Sian Ellard; David H. Rowitch; F. Lucy Raymond
HGG Advances, Vol 3, Iss 3, Pp 100113- (2022)
Academic Journal
Satyanarayana V Sagi; Hareesh Joshi; Emily Whiles; Mondy Hikmat; Vijith R Puthi; Jane MacDougall; Sarah L Spiden; Gavin Fuller; Soo-Mi Park; Samson O Oyibo
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2020)
Academic Journal
Ruth T. Casey; Rogier ten Hoopen; Eguzkine Ochoa; Benjamin G. Challis; James Whitworth; Philip S. Smith; Jose Ezequiel Martin; Graeme R. Clark; Fay Rodger; Mel Maranian; Kieren Allinson; Basetti Madhu; Thomas Roberts; Luis Campos; Joanne Anstee; Soo-Mi Park; Alison Marker; Colin Watts; Venkata R. Bulusu; Olivier T. Giger; Eamonn R. Maher
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Academic Journal
Aisling McCarthy; Sophie Howarth; Serena Khoo; Julia Hale; Sue Oddy; David Halsall; Brian Fish; Sashi Mariathasan; Katrina Andrews; Samson O Oyibo; Manjula Samyraju; Katarzyna Gajewska-Knapik; Soo-Mi Park; Diana Wood; Carla Moran; Ruth T Casey
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2019)
Academic Journal
Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; The DDD study; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Academic Journal
Jennifer Hague; Ruth Casey; Jonathan Bruty; Tom Legerton; Stephen Abbs; Susan Oddy; Andrew S Powlson; Mohamed Majeed; Mark Gurnell; Soo-Mi Park; Helen Simpson
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Academic Journal
Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder Jr; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; The DDD study; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
Academic Journal
Mary R. Sy; Jaynee Chauhan; Katrina Prescott; Aliza Imam; Alison Kraus; Ana Beleza; Lee Salkeld; Saraswati Hosdurga; Michael Parker; Pradeep Vasudevan; Lily Islam; Himanshu Goel; Nicole Bain; Soo‐Mi Park; Shehla Mohammed; Klaus Dieterich; Charles Coutton; Véronique Satre; Gaëlle Vieville; Alan Donaldson; Claire Beneteau; Jamal Ghoumid; Kris Van Den Bogaert; Anneleen Boogaerts; Elise Boudry; Clémence Vanlerberghe; Florence Petit; Laura Bernardini; Barbara Torres; Teresa Mattina; Diana Carli; Giorgia Mandrile; Michele Pinelli; Nicola Brunetti‐Pierri; Katherine Neas; Rachel Beddow; Pernille M. Tørring; Flavio Faletra; Beatrice Spedicati; Paolo Gasparini; Alessandro Mussa; Giovanni Battista Ferrero; Anne Lampe; Wayne Lam; Weimin Bi; Carlos A. Bacino; Akela Kuwahara; Jeffrey O. Bush; Xiaonan Zhao; Pamela N. Luna; Chad A. Shaw; Jill A. Rosenfeld; Daryl A. Scott
American Journal of Medical Genetics Part A, vol 188, iss 12
Academic Journal
Clinical Endocrinology. 97:388-399
Academic Journal
Sophie T. Williams; Prodromos Chatzikyriakou; Paul V. Carroll; Barbara M. McGowan; Anand Velusamy; Gemma White; Rupert Obholzer; Scott Akker; Nicola Tufton; Ruth T. Casey; Eamonn R. Maher; Soo‐Mi Park; Mary Porteous; Rebecca Dyer; Tricia Tan; Florian Wernig; Angela F. Brady; Monika Kosicka‐Slawinska; Benjamin C. Whitelaw; Huw Dorkins; Fiona Lalloo; Paul Brennan; Joseph Carlow; Richard Martin; Anna L. Mitchell; Rachel Harrison; Lara Hawkes; John Newell‐Price; Alan Kelsall; Rebecca Igbokwe; Julian Adlard; Schaida Schirwani; Rosemarie Davidson; Patrick J. Morrison; Teng‐Teng Chung; Christopher Bowles; Louise Izatt
Williams, S T, Chatzikyriakou, P, Carroll, P V, McGowan, B M, Velusamy, A, White, G, Obholzer, R, Akker, S, Tufton, N, Casey, R T, Maher, E R, Park, S M, Porteous, M, Dyer, R, Tan, T, Wernig, F, Brady, A F, Kosicka-Slawinska, M, Whitelaw, B C, Dorkins, H, Lalloo, F, Brennan, P, Carlow, J, Martin, R, Mitchell, A L, Harrison, R, Hawkes, L, Newell-Price, J, Kelsall, A, Igbokwe, R, Adlard, J, Schirwani, S, Davidson, R, Morrison, P J, Chung, T T, Bowles, C & Izatt, L 2021, 'SDHC phaeochromocytoma and paraganglioma : A UK-wide case series', Clinical endocrinology, vol. 96, no. 4. https://doi.org/10.1111/cen.14594, https://doi.org/10.1111/cen.14594
Academic Journal
Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick J. Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R. F. Reijnders; Alison Yeung; Helger G. Yntema; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V. K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E. L. M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Academic Journal
Sashi Mariathasan; Katrina A. Andrews; Edward Thompson; Ben G. Challis; Sarah Wilcox; Heather Pierce; Julia Hale; Sarah Spiden; Gavin Fuller; Helen L. Simpson; Brian Fish; Piyush Jani; Ian Seetho; Ruth Armstrong; Louise Izatt; Mamta Joshi; Anand Velusamy; Soo‐Mi Park; Ruth T. Casey
Clinical Endocrinology. 93:409-418
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