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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

  • Christopher C.Y. Mak
  • , Dan Doherty
  • , Angela E. Lin
  • , Nancy Vegas
  • , Megan T. Cho
  • , Géraldine Viot
  • , Clémantine Dimartino
  • , James D. Weisfeld-Adams
  • , Davor Lessel
  • , Shelagh Joss
  • , Chumei Li
  • , Claudia Gonzaga-Jauregui
  • , Yuri A. Zarate
  • , Nadja Ehmke
  • , Denise Horn
  • , Caitlin Troyer
  • , Sarina G. Kant
  • , Youngha Lee
  • , Gisele E. Ishak
  • , Gordon Leung
    • Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre Marie Martin, Benjamin Apple, Francisca Millan, Oliver Puk, Mariette J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Pei, Farah R. Zahir, Mullin Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, Elizabeth Francisco, Tim M. Strom, Louise Amlie-Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel-Salmon, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Y. Tan, Naama Orenstein, William B. Dobyns, Joseph T. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael J. Parker, Joan Stoler, Stanislas Lyonnet, Valérie Cormier-Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian H.Y. Chung, Christopher T. Gordon

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42 Citas (Scopus)

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Medicine and Dentistry

Neuroscience

Biochemistry, Genetics and Molecular Biology