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Research |
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Research |
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
- Futoshi Sekiguchi
- , Yoshinori Tsurusaki
- , Nobuhiko Okamoto
- , Keng Wee Teik
- , Seiji Mizuno
- , Hiroshi Suzumura
- , Bertrand Isidor
- , Winnie Peitee Ong
- , Muzhirah Haniffa
- , Susan M. White
- , Mari Matsuo
- , Kayoko Saito
- , Shubha Phadke
- , Tomoki Kosho
- , Patrick Yap
- , Manisha Goyal
- , Lorne A. Clarke
- , Rani Sachdev
- , George McGillivray
- , Richard J. Leventer
- , Chirag Patel
- , Takanori Yamagata
- , Hitoshi Osaka
- , Yoshiya Hisaeda
- , Hirofumi Ohashi
- , Kenji Shimizu
- , Keisuke Nagasaki
- , Junpei Hamada
- , Sumito Dateki
- , Takashi Sato
- , Yasutsugu Chinen
- , Tomonari Awaya
- , Takeo Kato
- , Kougoro Iwanaga
- , Masahiko Kawai
- , Takashi Matsuoka
- , Yoshikazu Shimoji
- , Tiong Yang Tan
- , Seema Kapoor
- , Nerine Gregersen
- , Massimiliano Rossi
- , Mathieu Marie-Laure
- , Lesley McGregor
- , Kimihiko Oishi
- , Lakshmi Mehta
- , Greta Gillies
- , Paul J. Lockhart
- , Kate Pope
- , Anju Shukla
- , Katta Mohan Girisha
- , Ghada M. H. Abdel-Salam
- , David Mowat
- , David Coman
- , Ok Hwa Kim
- , Marie-Pierre Cordier
- , Kate Gibson
- , Jeff Milunsky
- , Jan Liebelt
- , Helen Cox
- , Salima El Chehadeh
- , Annick Toutain
- , Ken Saida
- , Hiromi Aoi
- , Gaku Minase
- , Naomi Tsuchida
- , Kazuhiro Iwama
- , Yuri Uchiyama
- , Toshifumi Suzuki
- , Kohei Hamanaka
- , Yoshiteru Azuma
- , Atsushi Fujita
- , Eri Imagawa
- , Eriko Koshimizu
- , Atsushi Takata
- , Satomi Mitsuhashi
- , Satoko Miyatake
- , Takeshi Mizuguchi
- , Noriko Miyake
- & Naomichi Matsumoto
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Research |
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
- Ashley P L Marsh
- , Delphine Heron
- , Timothy J Edwards
- , Angélique Quartier
- , Charles Galea
- , Caroline Nava
- , Agnès Rastetter
- , Marie-Laure Moutard
- , Vicki Anderson
- , Pierre Bitoun
- , Jens Bunt
- , Anne Faudet
- , Catherine Garel
- , Greta Gillies
- , Ilan Gobius
- , Justine Guegan
- , Solveig Heide
- , Boris Keren
- , Fabien Lesne
- , Vesna Lukic
- , Simone A Mandelstam
- , George McGillivray
- , Alissandra McIlroy
- , Aurélie Méneret
- , Cyril Mignot
- , Laura R Morcom
- , Sylvie Odent
- , Annalisa Paolino
- , Kate Pope
- , Florence Riant
- , Gail A Robinson
- , Megan Spencer-Smith
- , Myriam Srour
- , Sarah E M Stephenson
- , Rick Tankard
- , Oriane Trouillard
- , Quentin Welniarz
- , Amanda Wood
- , Alexis Brice
- , Guy Rouleau
- , Tania Attié-Bitach
- , Martin B Delatycki
- , Jean-Louis Mandel
- , David J Amor
- , Emmanuel Roze
- , Amélie Piton
- , Melanie Bahlo
- , Thierry Billette de Villemeur
- , Elliott H Sherr
- , Richard J Leventer
- , Linda J Richards
- , Paul J Lockhart
- & Christel Depienne
