Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

Por Renbaum, Paul, Kellerman, Efrat, Jaron, Ranit, Geiger, Dan, Segel, Reeval, Lee, Ming, King, Mary Claire, Levy-Lahad, Ephrat
Publicado em 2009

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Por Aran, Adi, Rosenfeld, Nuphar, Jaron, Ranit, Renbaum, Paul, Zuckerman, Shachar, Fridman, Hila, Zeligson, Sharon, Segel, Reeval, Kohn, Yoav, Kamal, Lara, Kanaan, Moien, Segev, Yoram, Mazaki, Eyal, Rabinowitz, Ron, Shen, Ori, Lee, Ming, Walsh, Tom, King, Mary Claire, Gulsuner, Suleyman, Levy-Lahad, Ephrat
Publicado no Neurology (2016)