1 Ocak 2017 Dergi makalesi Açık Erişim

Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frederic; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher; Lehmann, Andrea; Cogne, Benjamin; Kuery, Sebastien; Besnard, Thomas; Isidor, Bertrand; Bezieau, Stephane; Hazart, Isabelle; Nagakura, Honey; Immken, LaDonna L.; Littlejohn, Rebecca O.; Roeder, Elizabeth; Roeder, Elizabeth

BibTeX

@article{santiago_sim_teresa_2017_45123,
  author       = {Santiago-Sim, Teresa and
                  Burrage, Lindsay C. and
                  Ebstein, Frederic and
                  Tokita, Mari J. and
                  Miller, Marcus and
                  Bi, Weimin and
                  Braxton, Alicia A. and
                  Rosenfeld, Jill A. and
                  Shahrour, Maher and
                  Lehmann, Andrea and
                  Cogne, Benjamin and
                  Kuery, Sebastien and
                  Besnard, Thomas and
                  Isidor, Bertrand and
                  Bezieau, Stephane and
                  Hazart, Isabelle and
                  Nagakura, Honey and
                  Immken, LaDonna L. and
                  Littlejohn, Rebecca O. and
                  Roeder, Elizabeth and
                  Roeder, Elizabeth},
  title        = {{Biallelic Variants in OTUD6B Cause an Intellectual 
                   Disability Syndrome Associated with Seizures and
                   Dysmorphic Features}},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  year         = 2017,
  volume       = 100,
  number       = 4,
  pages        = {676-688},
  month        = jan,
}