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European Journal of Human Genetics : EJHG|July 31, 2008
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and AcadiansInga Ebermann, Robert K Koenekoop, Irma Lopez, et al.Clinical Genetics|April 4, 2017
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotypeA O Khan, B S Budde, P Nürnberg, et al.The Journal of Arthroplasty|June 3, 2024
Short-Term (90 Days) Clinical Outcomes Following the Day of Surgery Conversion of Inpatient to Same-Day Hip and Knee ArthroplastyBrynn P Charron, Nicholas J Bolz, Brent A Lanting, et al.Cold Spring Harbor Molecular Case Studies|October 28, 2022
A novel large in-frame FBN1 deletion causes neonatal Marfan syndromeSümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, et al.Neuron|January 5, 2002
Kinase-independent requirement of EphB2 receptors in hippocampal synaptic plasticityI C Grunwald, M Korte, D Wolfer, et al.European Journal of Human Genetics : EJHG|August 14, 2014
Tectonic gene mutations in patients with Joubert syndromePeter Huppke, Eike Wegener, Helena Böhrer-Rabel, et al.British Journal of Pharmacology|December 1, 1993
Antinociceptive activity of NK1 receptor antagonists: non-specific effects of racemic RP67580N M Rupniak, S Boyce, A R Williams, et al.The British Journal of Ophthalmology|May 1, 2009
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK geneP Charbel Issa, H J Bolz, I Ebermann, et al.Neuron|November 26, 1999
Essential role for TrkB receptors in hippocampus-mediated learningL Minichiello, M Korte, D Wolfer, et al.Genes|February 5, 2020
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal DystrophiesJohannes Birtel, Martin Gliem, Kristina Hess, et al.Pageof 19