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Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.Gene|May 21, 2022
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codonErich Schaflinger, Jasmin Blatterer, Aiman Saeed Khan, et al.Clinical Genetics|June 4, 2023
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codonsLukas Kaufmann, Johannes Pilic, Lisa Auinger, et al.Molecular Genetics and Genomics : MGG|October 18, 2006
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndromeErwin Petek, Thomas Schwarzbraun, Abdul Noor, et al.The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|October 15, 2016
Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTLSusanne A Bengesser, Eva Z Reininghaus, Nina Lackner, et al.Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.Human Molecular Genetics|February 9, 2013
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizuresAnath C Lionel, Andrea K Vaags, Daisuke Sato, et al.Science (New York, N.Y.)|April 12, 2003
Human chromosome 7: DNA sequence and biologyStephen W Scherer, Joseph Cheung, Jeffrey R MacDonald, et al.Pageof 4