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Acta Neuropathologica|March 27, 2023
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genesLucas Hoffmann, Roland Coras, Katja Kobow, et al.American Journal of Human Genetics|May 5, 2009
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneStephen R F Twigg, Sarah L Versnel, Gudrun Nürnberg, et al.American Journal of Human Genetics|December 7, 2010
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingYun Li, Kathrin Laue, Samia Temtamy, et al.Human Molecular Genetics|August 7, 2013
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyMuhammad S Hussain, Shahid M Baig, Sascha Neumann, 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.American Journal of Human Genetics|April 10, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafishP V Asharani, Katharina Keupp, Oliver Semler, et al.Human Mutation|July 22, 2014
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeGilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh, et al.American Journal of Human Genetics|January 7, 2014
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos diseaseF Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, et al.Nature Genetics|July 26, 2003
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationFrank Rutsch, Nico Ruf, Sucheta Vaingankar, et al.The New England Journal of Medicine|July 8, 2011
Wnt signaling and Dupuytren's diseaseGuido H Dolmans, Paul M Werker, Hans C Hennies, et al.Pageof 52