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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.Neurogastroenterology and Motility|August 14, 2019
The international anorectal physiology working group (IAPWG) recommendations: Standardized testing protocol and the London classification for disorders of anorectal functionEmma V Carrington, Henriette Heinrich, Charles H Knowles, et al.American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.Blood|July 12, 2015
Disease evolution and outcomes in familial AML with germline CEBPA mutationsKiran Tawana, Jun Wang, Aline Renneville, et al.Nature Communications|April 14, 2015
Logging cuts the functional importance of invertebrates in tropical rainforestRobert M Ewers, Michael J W Boyle, Rosalind A Gleave, et al.Cancer Research|February 9, 2021
Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug ResponsePing Zhang, Isaac Kitchen-Smith, Lingyun Xiong, et al.Nature Genetics|August 9, 2011
Germline mutations in RAD51D confer susceptibility to ovarian cancerChey Loveday, Clare Turnbull, Emma Ramsay, et al.The New England Journal of Medicine|October 17, 2019
Randomized Trial of Medical versus Surgical Treatment for Refractory HeartburnStuart J Spechler, John G Hunter, Karen M Jones, et al.Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.Pageof 80