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European Journal of Nutrition|December 26, 2022
Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLSFabian Hellbach, Lucy Sinke, Ricardo Costeira, et al.Genome Medicine|August 25, 2020
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variationsShuang Li, K Joeri van der Velde, Dick de Ridder, et al.Human Genetics|September 1, 1997
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64R J Sinke, V E Carlton, J A Juijn, et al.Scientific Reports|August 20, 2022
Neuronal effects of glabellar botulinum toxin injections using a valenced inhibition task in borderline personality disorderTillmann H C Kruger, Jara Schulze, Agnès Bechinie, et al.Ophthalmic Epidemiology|December 15, 2022
Prevalence of Trachoma in Pre-validation Surveillance Surveys in 11 Evaluation Units (Covering 12 Districts) in Oromia Regional State, Ethiopia: Results from 2018-2020Hirpa Miecha, Michael Dejene, Dereje Adugna, et al.European Journal of Medical Genetics|December 7, 2007
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the NetherlandsHester Y Kroes, Patrick H A van Zon, Dietje Fransen van de Putte, et al.Journal of Medical Genetics|August 15, 2012
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual faceMagdalena Harakalova, Marie-Jose van den Boogaard, Richard Sinke, et al.BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.European Heart Journal|February 22, 2014
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathyKarin Y van Spaendonck-Zwarts, Anna Posafalvi, Maarten P van den Berg, et al.Annals of Neurology|January 3, 2013
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19Anna Duarri, Justyna Jezierska, Michiel Fokkens, et al.Pageof 30