From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
Investigative ophthalmology & visual science 2017 Sep 58 (11): 4579-4585.
Mootha V Vinod, Hansen Brock, Rong Ziye, Mammen Pradeep P, Zhou Zhengyang, Xing Chao, Gong X - Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.
Journal of human genetics 2017 Jul .
Zimowski Janusz G, Pawelec Magdalena, Purzycka Joanna K, Szirkowiec Walentyna, Zaremba Jac - Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017 Mar .
Colombo Paola, Nobile Maria, Tesei Alessandra, Civati Federica, Gandossini Sandra, Mani Elisa, Molteni Massimo, Bresolin Nereo, D'Angelo Graz - Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.
Nature communications 2017 Jan 8 14143.
Hogarth Marshall W, Houweling Peter J, Thomas Kristen C, Gordish-Dressman Heather, Bello Luca, , Pegoraro Elena, Hoffman Eric P, Head Stewart I, North Kathryn - Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2016 Dec .
Cruz-Aguilar Marisa, Guerrero-de Ferran Caroline, Tovilla-Canales Jose Luis, Nava-Castañeda Angel, Zenteno Juan
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