Showing results (61-70 of 305) with videos related to

Sort By:
Pageof 31
BMC Medical Genetics|September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionBassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Neuron|October 12, 2004
Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioningTianzhi Shu, Ramses Ayala, Minh-Dang Nguyen, et al.
Orphanet Journal of Rare Diseases|May 17, 2012
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearanceBassam R Ali, Jennifer L Silhavy, Nadia A Akawi, et al.
Human Genome Variation|April 16, 2016
Mutation spectrum of Joubert syndrome and related disorders among ArabsSalma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, et al.
Human Genome Variation|April 16, 2016
Erratum: Mutation spectrum of Joubert syndrome and related disorders among ArabsSalma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, et al.
Developmental Neurobiology|August 10, 2016
DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neuronsHiroyuki Koizumi, Hiromi Fujioka, Kazuya Togashi, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 12, 2003
Multiple dose-dependent effects of Lis1 on cerebral cortical developmentMichael J Gambello, Dawn L Darling, Jessica Yingling, et al.
The Journal of Cell Biology|June 3, 2004
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migrationTeruyuki Tanaka, Finley F Serneo, Christine Higgins, et al.
American Journal of Human Genetics|December 29, 2015
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyHanan E Shamseldin, Eissa Faqeih, Ali Alasmari, et al.
Trends in Genetics : TIG|April 2, 2026
When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopmentYuji Nakamura, Toan Nguyen, Nofar Mor, et al.
Pageof 31