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Clinical Genetics|April 23, 2016
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotypingJ S Amos, L Huang, J Thevenon, et al.The European Respiratory Journal|February 11, 2022
The burden of asthma, hay fever and eczema in children in 25 countries: GAN Phase I studyLuis García-Marcos, M Innes Asher, Neil Pearce, et al.The European Respiratory Journal|February 25, 2022
The burden of asthma, hay fever and eczema in adults in 17 countries: GAN Phase I studyKevin Mortimer, Maia Lesosky, Luis García-Marcos, et al.Proceedings of the National Academy of Sciences of the United States of America|June 24, 2020
Extreme climate after massive eruption of Alaska's Okmok volcano in 43 BCE and effects on the late Roman Republic and Ptolemaic KingdomJoseph R McConnell, Michael Sigl, Gill Plunkett, et al.Clinical Genetics|July 15, 2017
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 familiesT Hartley, J D Wagner, J Warman-Chardon, et al.Clinical Genetics|February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.Cell Death and Differentiation|July 23, 2016
ASPP2 deficiency causes features of 1q41q42 microdeletion syndromeJ Zak, V Vives, D Szumska, et al.Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.Pageof 10