학술논문
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'학술논문'
에서 검색결과 359건 | 목록
1~20
Academic Journal
Cook, Courtney B. ; Dragojlovic, Nick ; Siemens, Angela ; Adam, Shelin ; du Souich, Christèle ; van Karnebeek, Clara ; Lehman, Anna ; Nelson, Tanya N. ; Friedman, Jan ; Lynd, Larry D. ; Elliott, Alison M.
In European Journal of Medical Genetics July 2021 64(7)
Academic Journal
Dragojlovic, Nick ; Elliott, Alison M. ; Adam, Shelin ; van Karnebeek, Clara ; Lehman, Anna ; Mwenifumbo, Jill C. ; Nelson, Tanya N. ; du Souich, Christèle ; Friedman, Jan M. ; Lynd, Larry D.
In Genetics in Medicine September 2018 20(9):1-9
Academic Journal
In Pharmacology and Therapeutics July 2017 175:1-16
Academic Journal
Gonzalez, J. P.; Calvo, R.; Rodríguez-Sasiaín, J. M.; Jimenez, R.; Aguirre, C.; Valdivieso, A.; du Souich, P.
European Journal of Clinical Pharmacology. July 1995 48(3-4):295-297
Academic Journal
Dragojlovic, Nick ; van Karnebeek, Clara D.M. ; Ghani, Aisha ; Genereaux, Dallas ; Kim, Ellen ; Birch, Patricia ; Adam, Shelin ; du Souich, Christèle ; Elliott, Alison M. ; Lehman, Anna ; Lynd, Larry ; Mwenifumbo, Jill ; Nelson, Tanya N. ; van Karnebeek, Clara ; Friedman, Jan M. ; Lynd, Larry D.
In Genetics in Medicine February 2020 22(2):292-300
Academic Journal
Castgillo, J.R.; Hochberg, M.C.; Martel-Pelletier, J.; Monfort, J.; Möller, I.; Arden, N.; Berenbaum, F.; Conaghan, P.; Pap, T.; Richette, P.; Sawitzke, A.; du Souich, P.; Pelletier, J.-P.
Clinical Therapeutics. 37(8):e122-e122
Academic Journal
A M, Lehman; C, du Souich; D, Chai; P, Eydoux; J L, Huang; A K, Fok; L, Avila; J, Swingland; A D, Delaney; B, McGillivray; D, Goldowitz; B, Argiropoulos; M S, Kobor; C F, Boerkoel
Clinical Genetics. 81:56-63
Academic Journal
Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; GUERRINI, RENZO; Walsh C.A.
Neurology. 78:269-278
Academic Journal
Víctor Faundes; William G. Newman; Laura Bernardini; Natalie Canham; Jill Clayton-Smith; Bruno Dallapiccola; Sally J. Davies; Michelle K. Demos; Amy Goldman; Harinder Gill; Rachel Horton; Bronwyn Kerr; Dhavendra Kumar; Anna Lehman; Shane McKee; Jenny Morton; Michael J. Parker; Julia Rankin; Lisa Robertson; I. Karen Temple; Shelin Adam; Christèle du Souich; Alison M. Elliott; Jill Mwenifumbo; Tanya N. Nelson; Clara van Karnebeek; Jan M. Friedman; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; V.K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. . Hurles
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, 'Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187. https://doi.org/10.1016/j.ajhg.2017.11.013
Academic Journal
Elise, Valkanas; Katherine, Schaffer; Christopher, Dunham; Valerie, Maduro; Christèle, du Souich; Rosemarie, Rupps; David R, Adams; Alireza, Baradaran-Heravi; Elise, Flynn; May C, Malicdan; William A, Gahl; Camilo, Toro; Cornelius F, Boerkoel
American Journal of Medical Genetics Part A. 170:3106-3114
Academic Journal
Hochberg, M. C.; Martel-Pelletier, J.; Monfort, J.; Moller, I.; Castillo, J. R.; Arden, N.; Berenbaum, F.; Blanco, F. J.; Conaghan, P. G.; Domenech, G.; Henrotin, Yves; Pap, T.; Richette, P.; Sawitzke, A.; du Souich, P.; Pelletier, J. P.; Group, Moves Investigation
Ann Rheum Dis
RUC. Repositorio da Universidade da Coruña
instname
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Universidade da Coruña (UDC)
RUC. Repositorio da Universidade da Coruña
instname
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Universidade da Coruña (UDC)
Academic Journal
Iovu, Mirela-Onita ; Héroux, Lucie ; Vergés, Josep ; Montell, Eulália ; Paiement, Jacques ; du Souich, Patrick
In Carbohydrate Research 1 July 2012 355:63-68
Academic Journal
Clinical Genetics. August, 2009, Vol. 76 Issue 2, p214, 5 p.
Academic Journal
M Angeles, Carlos; Patrick, Du Souich; Raimundo, Carlos; Elena, Suarez; John C, Lukas; Rosario, Calvo
Journal of Pharmaceutical Sciences. 91:1627-1638
Academic Journal
American Journal of Medical Genetics Part A. 155:3164-3169
Academic Journal
Christèle, du Souich; Athena, Chou; Jingyi, Yin; Tracey, Oh; Tanya N, Nelson; Jane, Hurlburt; Laura, Arbour; Robin, Friedlander; Barbara C, McGillivray; Nataliya, Tyshchenko; Andreas, Rump; Kenneth J, Poskitt; Michelle K, Demos; Margot I, Van Allen; Cornelius F, Boerkoel
American Journal of Medical Genetics Part A. :2469-2478
Academic Journal
American Journal of Medical Genetics Part A. :713-721
Review
Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valerie; Amram, Daniel; Boute-Benejean, Odile; Bhoj, Elizabeth; Cousin, Margot A.; Kruisselbrink, Teresa M.; Lanpher, Brendan C.; Klee, Eric W.; Fiala, Elise; Grange, Dorothy K.; Meschino, Wendy S.; Hiatt, Susan M.; Cooper, Gregory M.; Olivie, Hilde; Smith, Wendy E.; Dumas, Meghan; Lehman, Anna; Adam, Shelin; du Souich, Christele; Elliott, Alison M.; Mwenifumbo, Jill; Nelson, Tanya N.; van Karnebeek, Clara; Friedman, Jan M.; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S.; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C.; Pajusalu, Sander; Li, Dong
EJHG. 28(6):770-782
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