학술논문
'학술논문'
에서 검색결과 12건 | 목록
1~10
Academic Journal
Amama Ghaffar; Tehmeena Akhter; Petter Strømme; Doriana Misceo; Amjad Khan; Eirik Frengen; Muhammad Umair; Bertrand Isidor; Benjamin Cogné; Asma A. Khan; Ange-Line Bruel; Arthur Sorlin; Paul Kuentz; Christine Chiaverini; A. Micheil Innes; Michael Zech; Marek Baláž; Petra Havrankova; Robert Jech; Zubair M. Ahmed; Sheikh Riazuddin; Saima Riazuddin
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Academic Journal
Sam Bradbrook; Gail Graham; Melissa Carter; Maria Kibaek; Martin Larsen; Christina Fagerberg; Katherine Dawson; Cheryl Meuter; Alexander Pepler; Thomas Besnard; Bertrand Isidor; Stéphane Bezieau; Benjamin Cogné; Marie Vincent; Katherine Bjorgo; Thomas Courtin; Lisa Emrick; Jill Rosenfeld; Undiagnosed Diseases Network; Julian Martinez-Agosto; Mathilde Heulin; Gilles Morin; Pauline Monin; Louis Januel; Marie-Noëlle Bonnet-Dupeyron; Mathilde Pujalte; Kim Worley; Monika Weisz-Hubshman; Patricia Dickson; Michelle Thompson; Julien Marcadier
Genetics in Medicine Open, Vol 2, Iss , Pp 101322- (2024)
Academic Journal
Jean-Madeleine de Sainte Agathe; Mathilde Filser; Bertrand Isidor; Thomas Besnard; Paul Gueguen; Aurélien Perrin; Charles Van Goethem; Camille Verebi; Marion Masingue; John Rendu; Mireille Cossée; Anne Bergougnoux; Laurent Frobert; Julien Buratti; Élodie Lejeune; Éric Le Guern; Florence Pasquier; Fabienne Clot; Vasiliki Kalatzis; Anne-Françoise Roux; Benjamin Cogné; David Baux
Human Genomics, Vol 17, Iss 1, Pp 1-16 (2023)
Academic Journal
Salima El Chehadeh; Kyung Ah Han; Dongwook Kim; Gyubin Jang; Somayeh Bakhtiari; Dongseok Lim; Hee Young Kim; Jinhu Kim; Hyeonho Kim; Julia Wynn; Wendy K. Chung; Giuseppina Vitiello; Ioana Cutcutache; Matthew Page; Jozef Gecz; Kelly Harper; Ah-reum Han; Ho Min Kim; Marja Wessels; Allan Bayat; Alberto Fernández Jaén; Angelo Selicorni; Silvia Maitz; Arjan P. M. de Brouwer; Anneke Vulto-van Silfhout; Martin Armstrong; Joseph Symonds; Sébastien Küry; Bertrand Isidor; Benjamin Cogné; Mathilde Nizon; Claire Feger; Jean Muller; Erin Torti; Dorothy K. Grange; Marjolaine Willems; Michael C. Kruer; Jaewon Ko; Amélie Piton; Ji Won Um
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
Academic Journal
Margot A. Cousin; Emma L. Veale; Nikita R. Dsouza; Swarnendu Tripathi; Robyn G. Holden; Maria Arelin; Geoffrey Beek; Mir Reza Bekheirnia; Jasmin Beygo; Vikas Bhambhani; Martin Bialer; Stefania Bigoni; Cyrus Boelman; Jenny Carmichael; Thomas Courtin; Benjamin Cogne; Ivana Dabaj; Diane Doummar; Laura Fazilleau; Alessandra Ferlini; Ralitza H. Gavrilova; John M. Graham; Tobias B. Haack; Jane Juusola; Sarina G. Kant; Saima Kayani; Boris Keren; Petra Ketteler; Chiara Klöckner; Tamara T. Koopmann; Teresa M. Kruisselbrink; Alma Kuechler; Laëtitia Lambert; Xénia Latypova; Robert Roger Lebel; Magalie S. Leduc; Emanuela Leonardi; Andrea M. Lewis; Wendy Liew; Keren Machol; Samir Mardini; Kirsty McWalter; Cyril Mignot; Julie McLaughlin; Alessandra Murgia; Vinodh Narayanan; Caroline Nava; Sonja Neuser; Mathilde Nizon; Davide Ognibene; Joohyun Park; Konrad Platzer; Céline Poirsier; Maximilian Radtke; Keri Ramsey; Cassandra K. Runke; Maria J. Guillen Sacoto; Fernando Scaglia; Marwan Shinawi; Stephanie Spranger; Ee Shien Tan; John Taylor; Anne-Sophie Trentesaux; Filippo Vairo; Rebecca Willaert; Neda Zadeh; Raul Urrutia; Dusica Babovic-Vuksanovic; Michael T. Zimmermann; Alistair Mathie; Eric W. Klee
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Academic Journal
Estelle Colin; Yannis Duffourd; Martin Chevarin; Emilie Tisserant; Simon Verdez; Julien Paccaud; Ange-Line Bruel; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Julien Thevenon; Hana Safraou; Thomas Besnard; Alice Goldenberg; Benjamin Cogné; Bertrand Isidor; Julian Delanne; Arthur Sorlin; Sébastien Moutton; Mélanie Fradin; Christèle Dubourg; Magali Gorce; Dominique Bonneau; Salima El Chehadeh; François-Guillaume Debray; Martine Doco-Fenzy; Kevin Uguen; Nicolas Chatron; Bernard Aral; Nathalie Marle; Paul Kuentz; Anne Boland; Robert Olaso; Jean-François Deleuze; Damien Sanlaville; Patrick Callier; Christophe Philippe; Christel Thauvin-Robinet; Laurence Faivre; Antonio Vitobello
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Academic Journal
Philip Boone; Kamli Faour; Kiana Mohajeri; John Lemanski; Bimal Jana; Jack Fu; Jennifer Kerkhof; Haley McConkey; Ryan Collins; Diane Lucente; Celine de Esch; Mariana Moysés-Oliveira; Alexander Nuttle; Aloysius Domingo; Serkan Erdin; Maris Hanley; Amy Watt; Eric Surette; Gloria Lima; Laura Smith; Monica Salani; Rachita Yadav; Ricardo Harripaul; Kathryn O’Keefe; Nicholas Burt; Matthew Larson; Riya Bhavsar; Benjamin Currall; Susan Sell; Roger Ladda; LaDonna Immken; Catherine Buchanan; Bo Yuan; Sally Lynch; Christian Gilissen; Rolph Pfundt; Charlotte Ockeloen; Tjitske Kleefstra; Els Vanhoutte; Margje Sinnema; Sander Stegmann; Servi Stevens; Maria Iascone; Silvia Maitz; Benjamin Cogne; Cedric Le Caignec; Marie Vincent; Mathilde Nizon; Alison Male; Pankaj Agrawal; Michelle Thompson; Pernille Torring; Charlotte Brasch-Andersen; Laurence Faivre; Ange-Line Bruel; Bertrand Isidor; Christophe Philippe; Manuela Morleo; Monica Wojcik; Casie Genetti; Siddharth Srivastava; Sonia Ballal; Sophia Schließke; Rami Abou Jamra; Andree Delahaye; Lydia von Wintzingerode; Viktoria Bothe; Marine Houlier; Timothy Stout; Gaber Bergant; Borut Peterlin; Oana Moldovan; Núria Martínez-Gil; Emanuela Argilli; Elliott Sherr; Tamar Harel; Hallel Rosenberg-Fogler; Jill Rosenfeld; Ingrid Wentzensen; Dominik Westphal; Korbinian Riedhammer; Laura Orec; James Gusella; Bekim Sadikovic; Derek Tai; Michael Talkowski
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Academic Journal
Soraya Sakhi; Sophie Cholet; Samer Wehbi; Bertrand Isidor; Benjamin Cogne; Sandrine Vuillaumier-Barrot; Thierry Dupré; Trost Detleft; Emmanuelle Schmitt; Bruno Leheup; Céline Bonnet; François Feillet; Christine Muti; François Fenaille; Arnaud Bruneel
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100775- (2021)
Academic Journal
Jillian M. Cameron; Snezana Maljevic; Umesh Nair; Ye Htet Aung; Benjamin Cogné; Stéphane Bézieau; Edward Blair; Bertrand Isidor; Christiane Zweier; André Reis; Mary Kay Koenig; Timothy Maarup; Dean Sarco; Alexandra Afenjar; A. H. M. Mahbubul Huq; Mary Kukolich; Thierry Billette de Villemeur; Caroline Nava; Bénédicte Héron; Steven Petrou; Samuel F. Berkovic
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
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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