학술논문
'학술논문'
에서 검색결과 10건 | 목록
1~10
Academic Journal
Laura J. Grange; John J. Reynolds; Farid Ullah; Bertrand Isidor; Robert F. Shearer; Xenia Latypova; Ryan M. Baxley; Antony W. Oliver; Anil Ganesh; Sophie L. Cooke; Satpal S. Jhujh; Gavin S. McNee; Robert Hollingworth; Martin R. Higgs; Toyoaki Natsume; Tahir Khan; Gabriel Á. Martos-Moreno; Sharon Chupp; Christopher G. Mathew; David Parry; Michael A. Simpson; Nahid Nahavandi; Zafer Yüksel; Mojgan Drasdo; Anja Kron; Petra Vogt; Annemarie Jonasson; Saad Ahmed Seth; Claudia Gonzaga-Jauregui; Karlla W. Brigatti; Alexander P. A. Stegmann; Masato Kanemaki; Dragana Josifova; Yuri Uchiyama; Yukiko Oh; Akira Morimoto; Hitoshi Osaka; Zineb Ammous; Jesús Argente; Naomichi Matsumoto; Constance T.R.M. Stumpel; Alexander M. R. Taylor; Andrew P. Jackson; Anja-Katrin Bielinsky; Niels Mailand; Cedric Le Caignec; Erica E. Davis; Grant S. Stewart
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Academic Journal
Elsa Leitão; Christopher Schröder; Ilaria Parenti; Carine Dalle; Agnès Rastetter; Theresa Kühnel; Alma Kuechler; Sabine Kaya; Bénédicte Gérard; Elise Schaefer; Caroline Nava; Nathalie Drouot; Camille Engel; Juliette Piard; Bénédicte Duban-Bedu; Laurent Villard; Alexander P. A. Stegmann; Els K. Vanhoutte; Job A. J. Verdonschot; Frank J. Kaiser; Frédéric Tran Mau-Them; Marcello Scala; Pasquale Striano; Suzanna G. M. Frints; Emanuela Argilli; Elliott H. Sherr; Fikret Elder; Julien Buratti; Boris Keren; Cyril Mignot; Delphine Héron; Jean-Louis Mandel; Jozef Gecz; Vera M. Kalscheuer; Bernhard Horsthemke; Amélie Piton; Christel Depienne
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Academic Journal
Ilaria Mannucci; Nghi D. P. Dang; Hannes Huber; Jaclyn B. Murry; Jeff Abramson; Thorsten Althoff; Siddharth Banka; Gareth Baynam; David Bearden; Ana Beleza-Meireles; Paul J. Benke; Siren Berland; Tatjana Bierhals; Frederic Bilan; Laurence A. Bindoff; Geir Julius Braathen; Øyvind L. Busk; Jirat Chenbhanich; Jonas Denecke; Luis F. Escobar; Caroline Estes; Julie Fleischer; Daniel Groepper; Charlotte A. Haaxma; Maja Hempel; Yolanda Holler-Managan; Gunnar Houge; Adam Jackson; Laura Kellogg; Boris Keren; Catherine Kiraly-Borri; Cornelia Kraus; Christian Kubisch; Gwenael Le Guyader; Ulf W. Ljungblad; Leslie Manace Brenman; Julian A. Martinez-Agosto; Matthew Might; David T. Miller; Kelly Q. Minks; Billur Moghaddam; Caroline Nava; Stanley F. Nelson; John M. Parant; Trine Prescott; Farrah Rajabi; Hanitra Randrianaivo; Simone F. Reiter; Janneke Schuurs-Hoeijmakers; Perry B. Shieh; Anne Slavotinek; Sarah Smithson; Alexander P. A. Stegmann; Kinga Tomczak; Kristian Tveten; Jun Wang; Jordan H. Whitlock; Christiane Zweier; Kirsty McWalter; Jane Juusola; Fabiola Quintero-Rivera; Utz Fischer; Nan Cher Yeo; Hans-Jürgen Kreienkamp; Davor Lessel
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
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
Felix Marbach; Magdeldin Elgizouli; Megan Rech; Jasmin Beygo; Florian Erger; Clara Velmans; Constance T. R. M. Stumpel; Alexander P. A. Stegmann; Stefanie Beck-Wödl; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Christian P. Schaaf; Alma Kuechler
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
BMC Neurology, Vol 20, Iss 1, Pp 1-4 (2020)
Academic Journal
Hui Guo; Elisa Bettella; Paul C. Marcogliese; Rongjuan Zhao; Jonathan C. Andrews; Tomasz J. Nowakowski; Madelyn A. Gillentine; Kendra Hoekzema; Tianyun Wang; Huidan Wu; Sharayu Jangam; Cenying Liu; Hailun Ni; Marjolein H. Willemsen; Bregje W. van Bon; Tuula Rinne; Servi J. C. Stevens; Tjitske Kleefstra; Han G. Brunner; Helger G. Yntema; Min Long; Wenjing Zhao; Zhengmao Hu; Cindy Colson; Nicolas Richard; Charles E. Schwartz; Corrado Romano; Lucia Castiglia; Maria Bottitta; Shweta U. Dhar; Deanna J. Erwin; Lisa Emrick; Boris Keren; Alexandra Afenjar; Baosheng Zhu; Bing Bai; Pawel Stankiewicz; Kristin Herman; University of Washington Center for Mendelian Genomics; Saadet Mercimek-Andrews; Jane Juusola; Amy B. Wilfert; Rami Abou Jamra; Benjamin Büttner; Heather C. Mefford; Alison M. Muir; Ingrid E. Scheffer; Brigid M. Regan; Stephen Malone; Jozef Gecz; Jan Cobben; Marjan M. Weiss; Quinten Waisfisz; Emilia K. Bijlsma; Mariëtte J. V. Hoffer; Claudia A. L. Ruivenkamp; Stefano Sartori; Fan Xia; Jill A. Rosenfeld; Raphael A. Bernier; Michael F. Wangler; Shinya Yamamoto; Kun Xia; Alexander P. A. Stegmann; Hugo J. Bellen; Alessandra Murgia; Evan E. Eichler
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
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[AR] Alexander P. A. Stegmann
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