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American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.Human Genetics|March 23, 2004
Fine mapping of the Schnyder's crystalline corneal dystrophy locusVeena Theendakara, Gerard Tromp, Helena Kuivaniemi, et al.Annals of the Rheumatic Diseases|February 19, 2016
The EULAR points to consider for use of antirheumatic drugs before pregnancy, and during pregnancy and lactationCarina Götestam Skorpen, Maria Hoeltzenbein, Angela Tincani, et al.Investigative Ophthalmology & Visual Science|March 30, 2002
BIGH3 mutation spectrum in corneal dystrophiesFrancis L Munier, Beatrice E Frueh, Philippe Othenin-Girard, et al.European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.Plos One|May 28, 2010
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophyMichael L Nickerson, Brittany N Kostiha, Wolfgang Brandt, et al.Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.Annals of the Rheumatic Diseases|April 26, 2025
EULAR recommendations for use of antirheumatic drugs in reproduction, pregnancy, and lactation: 2024 updateLinda Rüegg, Andrea Pluma, Sabrina Hamroun, et al.Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.Pageof 4