학술논문
'학술논문'
에서 검색결과 7건 | 목록
1~10
Academic Journal
Ke Mao; Christelle Borel; Muhammad Ansar; Angad Jolly; Periklis Makrythanasis; Christine Froehlich; Justyna Iwaszkiewicz; Bingqing Wang; Xiaopeng Xu; Qiang Li; Xavier Blanc; Hao Zhu; Qi Chen; Fujun Jin; Harinarayana Ankamreddy; Sunita Singh; Hongyuan Zhang; Xiaogang Wang; Peiwei Chen; Emmanuelle Ranza; Sohail Aziz Paracha; Syed Fahim Shah; Valentina Guida; Francesca Piceci-Sparascio; Daniela Melis; Bruno Dallapiccola; Maria Cristina Digilio; Antonio Novelli; Monia Magliozzi; Maria Teresa Fadda; Haley Streff; Keren Machol; Richard A. Lewis; Vincent Zoete; Gabriella Maria Squeo; Paolo Prontera; Giorgia Mancano; Giulia Gori; Milena Mariani; Angelo Selicorni; Stavroula Psoni; Helen Fryssira; Sofia Douzgou; Sandrine Marlin; Saskia Biskup; Alessandro De Luca; Giuseppe Merla; Shouqin Zhao; Timothy C. Cox; Andrew K. Groves; James R. Lupski; Qingguo Zhang; Yong-Biao Zhang; Stylianos E. Antonarakis
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Academic Journal
Rachel L. Taylor; Carla Sanjuro Soriano; Simon Williams; Denisa Dzulova; Jane Ashworth; Georgina Hall; Theodora Gale; I. Christopher Lloyd; Chris F. Inglehearn; Carmel Toomes; Sofia Douzgou; Graeme C. Black
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Academic Journal
Michael A. Levy; David B. Beck; Kay Metcalfe; Sofia Douzgou; Sivagamy Sithambaram; Trudie Cottrell; Muhammad Ansar; Jennifer Kerkhof; Cyril Mignot; Marie-Christine Nougues; Boris Keren; Hannah W. Moore; Renske Oegema; Jacques C. Giltay; Marleen Simon; Richard H. van Jaarsveld; Jessica Bos; Mieke van Haelst; M. Mahdi Motazacker; Elles M. J. Boon; Gijs W. E. Santen; Claudia A. L. Ruivenkamp; Marielle Alders; Teresa Romeo Luperchio; Leandros Boukas; Keri Ramsey; Vinodh Narayanan; G. Bradley Schaefer; Roberto Bonasio; Kimberly F. Doheny; Roger E. Stevenson; Sidharth Banka; Bekim Sadikovic; Jill A. Fahrner
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Academic Journal
Michael Smith; Elizabeth Alexander; Ruta Marcinkute; Dorica Dan; Myfanwy Rawson; Siddharth Banka; Jason Gavin; Hany Mina; Con Hennessy; Florence Riccardi; Francesca Clementina Radio; Marketa Havlovicova; Matteo Cassina; Adela Chirita Emandi; Melanie Fradin; Lianne Gompertz; Ann Nordgren; Rasa Traberg; Massimiliano Rossi; Aurelién Trimouille; Rasika Sowmyalakshmi; Bruno Dallapiccola; Alessandra Renieri; Laurence Faivre; Bronwyn Kerr; Alain Verloes; Jill Clayton-Smith; Sofia Douzgou; on behalf of ERN ITHACA
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
Michael A. Levy; David B. Beck; Kay Metcalfe; Sofia Douzgou; Sivagamy Sithambaram; Trudie Cottrell; Muhammad Ansar; Jennifer Kerkhof; Cyril Mignot; Marie-Christine Nougues; Boris Keren; Hannah W. Moore; Renske Oegema; Jacques C. Giltay; Marleen Simon; Richard H. van Jaarsveld; Jessica Bos; Mieke van Haelst; M. Mahdi Motazacker; Elles M. J. Boon; Gijs W. E. Santen; Claudia A. L. Ruivenkamp; Marielle Alders; Teresa Romeo Luperchio; Leandros Boukas; Keri Ramsey; Vinodh Narayanan; G. Bradley Schaefer; Roberto Bonasio; Kimberly F. Doheny; Roger E. Stevenson; Siddharth Banka; Bekim Sadikovic; Jill A. Fahrner
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Academic Journal
Katherine A Wood; Charlie F Rowlands; Huw B Thomas; Steven Woods; Julieta O'Flaherty; Sofia Douzgou; Susan J Kimber; William G Newman; Raymond T O'Keefe
PLoS ONE, Vol 15, Iss 7, p e0233582 (2020)
Academic Journal
Christoffer Nellåker; Fowzan S. Alkuraya; Gareth Baynam; Raphael A. Bernier; Francois P.J. Bernier; Vanessa Boulanger; Michael Brudno; Han G. Brunner; Jill Clayton-Smith; Benjamin Cogné; Hugh J.S. Dawkins; Bert B.A. deVries; Sofia Douzgou; Tracy Dudding-Byth; Evan E. Eichler; Michael Ferlaino; Karen Fieggen; Helen V. Firth; David R. FitzPatrick; Dylan Gration; Tudor Groza; Melissa Haendel; Nina Hallowell; Ada Hamosh; Jayne Hehir-Kwa; Marc-Phillip Hitz; Mark Hughes; Usha Kini; Tjitske Kleefstra; R Frank Kooy; Peter Krawitz; Sébastien Küry; Melissa Lees; Gholson J. Lyon; Stanislas Lyonnet; Julien L. Marcadier; Stephen Meyn; Veronika Moslerová; Juan M. Politei; Cathryn C. Poulton; F Lucy Raymond; Margot R.F. Reijnders; Peter N. Robinson; Corrado Romano; Catherine M. Rose; David C.G. Sainsbury; Lyn Schofield; Vernon R. Sutton; Marek Turnovec; Anke Van Dijck; Hilde Van Esch; Andrew O.M. Wilkie; The Minerva Consortium
Frontiers in Genetics, Vol 10 (2019)
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제한된 항목
[AR] Sofia Douzgou
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