Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
HODGE, J. C, MITCHELL, E, HANSON, R. R, SKINNER, S. A, ROGERS, R. C, EVERMAN, D. B, BOYD, E, TAPP, C, MULLEGAMA, S. V, KEELEAN-FULLER, D, POWELL, C. M, ELSEA, S. H, PILLALAMARRI, V, MORTON, C. C, GUSELLA, J. F, DUPONT, B, CHAUBEY, A, LIN, A. E, TALKOWSKI, M. E, TOLER, T. L, BARTEL, F, KEARNEY, H. M, ZOU, Y. S, TAN, W. H, HANSCOM, C, KIRMANI, S
Published in Molecular psychiatry (01.03.2014)
Published in Molecular psychiatry (01.03.2014)
Get full text
Journal Article
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces
Sinnige, P.F., van Ravenswaaij-Arts, C.M.A., Caruso, P., Lin, A.E., Boon, M., Rahikkala, E., Callewaert, B., Meiners, L.C.
Published in European journal of paediatric neurology (01.11.2017)
Published in European journal of paediatric neurology (01.11.2017)
Get full text
Journal Article
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
Ramer, J C, Lin, A E, Dobyns, W B, Winter, R, Aymé, S, Pallotta, R, Ladda, R L
Published in American journal of medical genetics (03.07.1995)
Published in American journal of medical genetics (03.07.1995)
Get more information
Journal Article