Results 91 to 100 of about 692 (127)

Intellectual Impairment in Muscular Dystrophy. [PDF]

Arch Dis Child, 1965
Dubowitz V.
europepmc   +1 more source

Intelligence and the gene for Duchenne muscular dystrophy. [PDF]

Arch Dis Child, 1969
Prosser EJ, Murphy EG, Thompson MW.
europepmc   +1 more source

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

JAMA Neurol, 2018
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.   +40 more
europepmc   +1 more source

Comunicaciones LX Reunión Anual SENFC Barcelona, 2 a 4 de octubre de 2024. [PDF]

Rev Neurol
europepmc   +1 more source

Anomalia de Dandy-Walker : reconhecimento de novo fenótipo relacionado à microdeleção XP21.3-P21.1 [PDF]

, 2017
Boer, Ana Paula Kurz de, Kahl, Felipe de Siqueira Toledo Koerich, Leite, Júlio César Loguercio, Oliveira, Bibiana Mello de, Wajner, Moacir   +4 more
core  

Distrofia miotônica: estudo da correlação clínico-genética em um par familiar (pai-filho) [PDF]

Antonia Cerqueira, Aron Diament, Aslanidis C, Bethlem J, Brook JD, Brunner HG, Buxton J, Harley HG, Harley HG, Harper PS, Howeler CJ, Hunter A, José Antonio Levy, Jozefowicz RF, Lucia I.Z. Mendonça, Maria Rita Passos-Bueno, Mayana Zatz, Morgenlander JC, Myring J, Ptacek LJ, Reardon W, Suely K. Nagahashi-Marie, Suthers GK, Umbertina C. Reed   +23 more
core   +1 more source

Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso [PDF]

Afifi AK, Alzira A. Siqueira-Carvalho, Banker BQ, Bethlem J, Bodensteiner JB, Cullen MF, Dalakas MC, Dalakas MC, Engel AG, Engel AG, Fardeau M, Fardeau M, Fukunaga H, Goebel HH, Goebel HH, Halbig L, Helga C. A. Azevedo, Hopkins IJ, José A. Levy, Martha N. S. Delgado, Martinez BA, Mary S. Carvalho, Nonaka I, Paulo N. B. Salum, Paulus W, Schimomura C, Shy GM, Simpson DM, Sueli K. Nagahashi -Marie   +28 more
core   +1 more source