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Clinical Genetics|July 31, 2007
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplificationF J Hes, R B van der Luijt, A L W Janssen, et al.Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.Nature|August 21, 2020
The future of food from the seaChristopher Costello, Ling Cao, Stefan Gelcich, et al.JAMA Pediatrics|June 13, 2022
Association of Patient and Family Reports of Hospital Safety Climate With Language Proficiency in the USAlisa Khan, Victoria Parente, Jennifer D Baird, et al.BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.Journal of Behavioral Addictions|April 21, 2017
Self-reported dependence on mobile phones in young adults: A European cross-cultural empirical surveyOlatz Lopez-Fernandez, Daria J Kuss, Lucia Romo, et al.Human Genetics|September 12, 2000
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13M Takahashi, E Rapley, P J Biggs, et al.Nature Genetics|June 3, 2000
Identification of the familial cylindromatosis tumour-suppressor geneG R Bignell, W Warren, S Seal, et al.Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.Journal of Hospital Medicine|December 10, 2025
Preventing InfusAte injuries throughout a Child's Hospitalization (PATCH): Study protocol for a type 1 hybrid randomized controlled trialAmanda J Ullman, Toni Day, Rebecca Doyle, et al.Pageof 140