A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

Por Kirwin, Susan M, Vinette, Kathy M B, Gonzalez, Iris L, Abdulwahed, Hind Al, Al-Sannaa, Nouriya, Funanage, Vicky L
Publicado em 2013

A Novel HRAS Substitution (c.266C>G; p.S89C) Resulting in Decreased Downstream Signaling Suggests a New Dimension of RAS Pathway Dysregulation in Human Development

Por Gripp, Karen W., Bifeld, Eugenia, Stabley, Deborah L., Hopkins, Elizabeth, Meien, Stefanie, Vinette, Kathy, Sol-Church, Katia, Rosenberger, Georg
Publicado em 2012

Detection of Rarely Identified Multiple Mutations in MECP2 Gene Do Not Contribute to Enhanced Severity in Rett Syndrome

Por Chapleau, Christopher A., Lane, Jane, Kirwin, Susan M., Schanen, Carolyn, Vinette, Kathy M. B., Stubbolo, Danielle, MacLeod, Patrick, Percy, Alan K.
Publicado em 2013