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Proceedings of the National Academy of Sciences of the United States of America|April 4, 2009
Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizuresGéraldine Kerjan, Hiroyuki Koizumi, Edward B Han, et al.
Developmental Biology|May 26, 2015
Polo-like kinase 2 regulates angiogenic sprouting and blood vessel developmentHongbo Yang, Longhou Fang, Rui Zhan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar AtaxiaReza Maroofian, Giulia Spoto, Dalila Moualek, et al.
Genes|April 26, 2025
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain LesionsCamila Araújo Bernardino Garcia, Muhammad Zubair, Marcelo Volpon Santos, et al.
Biochimica Et Biophysica Acta|April 2, 2016
Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvationJi Hyun Kim, Soo Mi Ki, Je-Gun Joung, et al.
Brain : a Journal of Neurology|July 24, 2012
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformationMaha S Zaki, Sahar N Saleem, William B Dobyns, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 13, 2016
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patientsMaha S Zaki, Laila Selim, Hala T El-Bassyouni, et al.
Nature Medicine|May 31, 2011
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndromeMadeline A Lancaster, Dipika J Gopal, Joon Kim, et al.
American Journal of Human Genetics|May 13, 2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndromeMelissa A Parisi, Craig L Bennett, Melissa L Eckert, et al.
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