학술논문
'학술논문'
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1~10
Academic Journal
Jill Clayton-Smith; Rebecca Bromley; John Dean; Hubert Journel; Sylvie Odent; Amanda Wood; Janet Williams; Verna Cuthbert; Latha Hackett; Neelo Aslam; Heli Malm; Gregory James; Lena Westbom; Ruth Day; Edmund Ladusans; Adam Jackson; Iain Bruce; Robert Walker; Sangeet Sidhu; Catrina Dyer; Jane Ashworth; Daniel Hindley; Gemma Arca Diaz; Myfanwy Rawson; Peter Turnpenny
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Academic Journal
Joanna J. Chmielewska; Deepika Burkardt; Jorge Luis Granadillo; Rachel Slaugh; Shamile Morgan; Joshua Rotenberg; Boris Keren; Cyril Mignot; Luis Escobar; Peter Turnpenny; Melissa Zuteck; Laurie H. Seaver; Rafal Ploski; Magdalena Dziembowska; Anthony Wynshaw-Boris; Abidemi Adegbola
HGG Advances, Vol 2, Iss 3, Pp 100033- (2021)
Academic Journal
Shane Doheny; Angus Clarke; Daniele Carrieri; Sandi Dheensa; Naomi Hawkins; Anneke Lucassen; Peter Turnpenny; Susan Kelly
New Genetics and Society, Vol 37, Iss 3, Pp 187-206 (2018)
Academic Journal
Katrina Tatton-Brown; Anna Zachariou; Chey Loveday; Anthony Renwick; Shazia Mahamdallie; Lise Aksglaede; Diana Baralle; Daniela Barge-Schaapveld; Moira Blyth; Mieke Bouma; Jeroen Breckpot; Beau Crabb; Tabib Dabir; Valerie Cormier-Daire; Christine Fauth; Richard Fisher; Blanca Gener; David Goudie; Tessa Homfray; Matthew Hunter; Agnete Jorgensen; Sarina G. Kant; Cathy Kirally-Borri; David Koolen; Ajith Kumar; Anatalia Labilloy; Melissa Lees; Carlo Marcelis; Catherine Mercer; Cyril Mignot; Kathryn Miller; Katherine Neas; Ruth Newbury-Ecob; Daniela T. Pilz; Renata Posmyk; Carlos Prada; Keri Ramsey; Linda M. Randolph; Angelo Selicorni; Deborah Shears; Mohnish Suri; I. Karen Temple; Peter Turnpenny; Lionel Val Maldergem; Vinod Varghese; Hermine E. Veenstra-Knol; Naomi Yachelevich; Laura Yates; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Nazneen Rahman
Wellcome Open Research, Vol 3 (2018)
Academic Journal
Patricia Blanchet; Martina Bebin; Shaam Bruet; Gregory M Cooper; Michelle L Thompson; Benedicte Duban-Bedu; Benedicte Gerard; Amelie Piton; Sylvie Suckno; Charu Deshpande; Virginia Clowes; Julie Vogt; Peter Turnpenny; Michael P Williamson; Yves Alembik; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium; Eric Glasgow; Alisdair McNeill
PLoS Genetics, Vol 13, Iss 8, p e1006957 (2017)
Academic Journal
Melita Irving; Helen Hanson; Peter Turnpenny; Carole Brewer; Caroline Mackie Ogilvie; Angela Davies; Jonathan Berg
American Journal of Medical Genetics; 2003, Vol. 123 Issue 2, p153, 11p
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[AR] Peter Turnpenny
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