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Elife|February 13, 2019
CNTN5-or EHMT2-human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networksEric Deneault, Muhammad Faheem, Sean H White, et al.
American Journal of Respiratory and Critical Care Medicine|January 13, 2022
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5BGregory Costain, Zhen Liu, Vito Mennella, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
Journal of the Royal Society of New Zealand|October 23, 2024
Climate change adaptation through an integrative lens in Aotearoa New ZealandJudy Lawrence, Anita Wreford, Paula Blackett, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Journal of Medical Genetics|October 26, 2010
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityAlistair T Pagnamenta, Hameed Khan, Susan Walker, et al.
Cell Reports|November 10, 2016
DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic VariantsVickie Kwan, Durga Praveen Meka, Sean H White, et al.
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