Showing results (551-560 of 878) with videos related to

Sort By:
Pageof 88
European Journal of Human Genetics : EJHG|January 28, 2024
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cellsZain Awamleh, Sanaa Choufani, Wendy Wu, et al.
The Journal of Biological Chemistry|October 29, 2014
Differential complement activation pathways promote C3b deposition on native and acetylated LDL thereby inducing lipoprotein binding to the complement receptor 1Boudewijn Klop, Pieter van der Pol, Robin van Bruggen, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
Plos Genetics|July 14, 2017
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognitionThomas Arbogast, Giovanni Iacono, Claire Chevalier, et al.
Human Molecular Genetics|April 25, 2002
Mutations in TITF-1 are associated with benign hereditary choreaGuido J Breedveld, Jeroen W F van Dongen, Cesare Danesino, et al.
Annals of Neurology|January 27, 2006
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutationK R J Vanmolkot, H Stroink, J B Koenderink, et al.
Pediatric Radiology|April 28, 2026
Application of artificial intelligence in paediatric oncology imagingGiulia De Donno, Isabelle S A de Vries, Laura M E Adriaansen, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|December 19, 2009
No beneficial effects of amantadine in treatment of chronic hepatitis C patientsHanneke van Soest, Peter J van der Schaar, Ger H Koek, et al.
European Journal of Human Genetics : EJHG|September 15, 2011
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomaliesBeata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, et al.
Nature Genetics|March 25, 2014
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural functionFernando Gómez-Herreros, Janneke H M Schuurs-Hoeijmakers, Mark McCormack, et al.
Pageof 88