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Genome Research|July 1, 2006
Copy number variation: new insights in genome diversityJennifer L Freeman, George H Perry, Lars Feuk, et al.Neurology. Genetics|February 12, 2020
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disordersE Robert Wassman, Karen S Ho, Diana Bertrand, et al.Nature Genetics|May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationSimone Berkel, Christian R Marshall, Birgit Weiss, et al.Human Genomics|November 22, 2021
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cellsNasna Nassir, Asma Bankapur, Bisan Samara, et al.Annals of Neurology|February 16, 1999
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsyB A Minassian, J Sainz, J M Serratosa, et al.Gastroenterology|June 19, 2014
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiencyTaina T Nieminen, Marie-Françoise O'Donohue, Yunpeng Wu, et al.Molecular Psychiatry|May 2, 2022
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in DrosophilaAngelina Palacios-Muñoz, Danielle de Paula Moreira, Valeria Silva, et al.Genome Biology|May 21, 2010
Towards a comprehensive structural variation map of an individual human genomeAndy W Pang, Jeffrey R MacDonald, Dalila Pinto, et al.Plos Genetics|September 15, 2010
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan dataAbigail Bigham, Marc Bauchet, Dalila Pinto, et al.Nature Genetics|June 16, 1999
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier proteinK Kobayashi, D S Sinasac, M Iijima, et al.Pageof 88