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Nature Communications|February 7, 2013
Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturationEuikyung Shin, Yutaro Kashiwagi, Toshihiko Kuriu, et al.Elife|July 5, 2022
Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmissionMartin W Breuss, Xiaoxu Yang, Valentina Stanley, et al.Neuron|June 20, 2014
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulationSeung Tae Baek, Geraldine Kerjan, Stephanie L Bielas, et al.Journal of Human Genetics|March 26, 2022
Biallelic BICD2 variant is a novel candidate for Cohen-like syndromeAhmet Okay Caglayan, Beyhan Tuysuz, Ece Gül, et al.Birth Defects Research|September 27, 2025
Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina BifidaMadison Strain, Melanie E Garrett, Max Bucklan, et al.Metabolic Brain Disease|September 18, 2014
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delaySalma Ben-Salem, Joseph G Gleeson, Aisha M Al-Shamsi, et al.Science Translational Medicine|January 1, 2025
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migrationIsaac Tang, Ashna Nisal, Alex Reed, et al.Nature Medicine|September 1, 2009
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, et al.Human Genetics|June 2, 2016
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndromeSusanne Roosing, Rasim O Rosti, Basak Rosti, et al.European Journal of Medical Genetics|October 26, 2010
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosumAlice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, et al.Pageof 34