학술논문
'학술논문'
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1~10
Academic Journal
Yingjie Zhao; Yujue Wang; Lijie Shi; Donna M. McDonald-McGinn; T. Blaine Crowley; Daniel E. McGinn; Oanh T. Tran; Daniella Miller; Jhih-Rong Lin; Elaine Zackai; H. Richard Johnston; Eva W. C. Chow; Jacob A. S. Vorstman; Claudia Vingerhoets; Therese van Amelsvoort; Doron Gothelf; Ann Swillen; Jeroen Breckpot; Joris R. Vermeesch; Stephan Eliez; Maude Schneider; Marianne B. M. van den Bree; Michael J. Owen; Wendy R. Kates; Gabriela M. Repetto; Vandana Shashi; Kelly Schoch; Carrie E. Bearden; M. Cristina Digilio; Marta Unolt; Carolina Putotto; Bruno Marino; Maria Pontillo; Marco Armando; Stefano Vicari; Kathleen Angkustsiri; Linda Campbell; Tiffany Busa; Damian Heine-Suñer; Kieran C. Murphy; Declan Murphy; Sixto García-Miñaúr; Luis Fernández; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhengdong D. Zhang; Elizabeth Goldmuntz; Raquel E. Gur; Beverly S. Emanuel; Deyou Zheng; Christian R. Marshall; Anne S. Bassett; Tao Wang; Bernice E. Morrow
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Academic Journal
Clarisse Billon; Salma Adham; Natalia Hernandez Poblete; Anne Legrand; Michael Frank; Laurent Chiche; Stephane Zuily; Karelle Benistan; Laurent Savale; Khaoula Zaafrane-Khachnaoui; Anne-Claire Brehin; Laurence Bal; Tiffany Busa; Mélanie Fradin; Chloé Quelin; Bertrand Chesneau; Denis Wahl; Patricia Fergelot; Cyril Goizet; Tristan Mirault; Xavier Jeunemaitre; Juliette Albuisson; Bordeaux-cohort collaborators
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Academic Journal
Ron Azogui; Alizee Porto; Maxime Castelli; Virgile Omnes; Mariangela De Masi; Michel Bartoli; Philippe Piquet; Vlad Gariboldi; Tiffany Busa; Alexis Jacquier; Laurence Bal; Marine Gaudry
Journal of Clinical Medicine, Vol 12, Iss 13, p 4378 (2023)
Academic Journal
Davor Lessel; Daniela M. Zeitler; Margot R. F. Reijnders; Andriy Kazantsev; Fatemeh Hassani Nia; Alexander Bartholomäus; Victoria Martens; Astrid Bruckmann; Veronika Graus; Allyn McConkie-Rosell; Marie McDonald; Bernarda Lozic; Ee-Shien Tan; Erica Gerkes; Jessika Johannsen; Jonas Denecke; Aida Telegrafi; Evelien Zonneveld-Huijssoon; Henny H. Lemmink; Breana W. M. Cham; Tanja Kovacevic; Linda Ramsdell; Kimberly Foss; Diana Le Duc; Diana Mitter; Steffen Syrbe; Andreas Merkenschlager; Margje Sinnema; Bianca Panis; Joanna Lazier; Matthew Osmond; Taila Hartley; Jeremie Mortreux; Tiffany Busa; Chantal Missirian; Pankaj Prasun; Sabine Lüttgen; Ilaria Mannucci; Ivana Lessel; Claudia Schob; Stefan Kindler; John Pappas; Rachel Rabin; Marjolein Willemsen; Thatjana Gardeitchik; Katharina Löhner; Patrick Rump; Kerith-Rae Dias; Carey-Anne Evans; Peter Ian Andrews; Tony Roscioli; Han G. Brunner; Chieko Chijiwa; M. E. Suzanne Lewis; Rami Abou Jamra; David A. Dyment; Kym M. Boycott; Alexander P. A. Stegmann; Christian Kubisch; Ene-Choo Tan; Ghayda M. Mirzaa; Kirsty McWalter; Tjitske Kleefstra; Rolph Pfundt; Zoya Ignatova; Gunter Meister; Hans-Jürgen Kreienkamp
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Academic Journal
Mubarak Alqahtani; Amandine Claudinot; Marine Gaudry; Axel Bartoli; Pierre Antoine Barral; Vincent Vidal; Louis Boyer; Tiffany Busa; Farah Cadour; Alexis Jacquier; Mariangela De Masi; Laurence Bal
Journal of Clinical Medicine, Vol 11, Iss 21, p 6344 (2022)
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
Academic Journal
Mario Abaji; Svetlana Gorokhova; Nathalie Da Silva; Tiffany Busa; Maude Grelet; Chantal Missirian; Sabine Sigaudy; Nicole Philip; France Leturcq; Nicolas Lévy; Martin Krahn; Marc Bartoli
Genes, Vol 13, Iss 7, p 1277 (2022)
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