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Human Molecular Genetics|May 19, 2017
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesisChunbo Yang, Yaobo Xu, Min Yu, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathyRita Horvath, Elke Holinski-Feder, Vivienne C M Neeve, et al.Arteriosclerosis, Thrombosis, and Vascular Biology|October 24, 2019
Human Y Chromosome Exerts Pleiotropic Effects on Susceptibility to AtherosclerosisJames M Eales, Akhlaq A Maan, Xiaoguang Xu, et al.Frontiers in Pediatrics|November 8, 2021
PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial ResultsThomas Aldersley, John Lawrenson, Paul Human, et al.Nature Communications|September 12, 2014
Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exonsAndrew Best, Katherine James, Caroline Dalgliesh, et al.Circulation. Cardiovascular Genetics|April 17, 2012
A common variant in the PTPN11 gene contributes to the risk of tetralogy of FallotJudith A Goodship, Darroch Hall, Ana Topf, et al.Mechanisms of Ageing and Development|August 26, 2011
Assessment of a large panel of candidate biomarkers of ageing in the Newcastle 85+ studyCarmen Martin-Ruiz, Carol Jagger, Andrew Kingston, et al.Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.Blood|July 19, 2011
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiencyRachel Emma Dickinson, Helen Griffin, Venetia Bigley, et al.Plos One|March 25, 2009
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformationHelen R Griffin, Darroch H Hall, Ana Topf, et al.Pageof 11