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Proceedings of the National Academy of Sciences of the United States of America|January 7, 2021
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritanceFranck Rapaport, Bertrand Boisson, Anne Gregor, et al.Nature Genetics|June 26, 2012
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalyJeong Ho Lee, My Huynh, Jennifer L Silhavy, et al.Biorxiv : the Preprint Server for Biology|November 14, 2023
Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrainChanguk Chung, Xiaoxu Yang, Robert F Hevner, et al.Journal of Medical Genetics|June 20, 2017
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic featuresIsaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.Plos Biology|June 15, 2019
Cytosine-5 RNA methylation links protein synthesis to cell metabolismNikoletta A Gkatza, Cecilia Castro, Robert F Harvey, et al.Nature Communications|August 14, 2020
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.Science (New York, N.Y.)|April 29, 2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkMichael J McConnell, John V Moran, Alexej Abyzov, et al.Brain : a Journal of Neurology|October 25, 2021
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardationLeonie von Elsner, Guoliang Chai, Pauline E Schneeberger, et al.American Journal of Human Genetics|March 27, 2012
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndromeBobby G Ng, Karl Hackmann, Melanie A Jones, et al.Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, et al.Pageof 31