Results 191 to 200 of about 56,471 (208)

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report. [PDF]

J Med Case Rep
Raggio V, Rey A, Simoes C, Birriel F, Rodriguez S, Bentancor K, Tapié A, Spangenberg L.   +7 more
europepmc   +1 more source

Las enfermedades raras, un reto histórico

EIDON, 2017
openaire   +1 more source

Nucleobase catalysts for the enzymatic activation of 8-oxoguanine DNA glycosylase 1. [PDF]

RSC Chem Biol
Hank EC, D'Arcy-Evans ND, Scaletti ER, Benítez-Buelga C, Wallner O, Ortis F, Zhou K, Meng L, Del Prado A, Calvo P, Almlöf I, Wiita E, Nierlin K, Košenina S, Krämer A, Eddershaw A, Kehler M, Long M, Jemth AS, Dawson H, Stewart J, Dickey A, Astorga ME, Varga M, Homan EJ, Scobie M, Knapp S, Sastre L, Stenmark P, de Vega M, Helleday T, Michel M.   +31 more
europepmc   +1 more source

Las enfermedades raras y la ética

EIDON, 2017
openaire   +1 more source

Advances in gene therapy for Lafora disease: Intravenous recombinant adeno-associated virus-mediated delivery of EPM2A and EPM2B genes. [PDF]

Clin Transl Med
Zafra-Puerta L, Iglesias-Cabeza N, Sciaccaluga M, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM.   +8 more
europepmc   +1 more source

¿Qué sabemos de? Enfermedades raras

, 2020
openaire   +2 more sources

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Enfermedades raras en oftalmología

Archivos de la Sociedad Española de Oftalmología, 2022
J. Jiménez Benito, M.A. Saornil Álvarez, L. Macías Molinero, N. Gajate Paniagua   +3 more
openaire   +1 more source

Enfermedades raras

FMC - Formación Médica Continuada en Atención Primaria, 2007
openaire   +1 more source

Semergen y las enfermedades raras

SEMERGEN - Medicina de Familia, 2008
G. Pombo Alles, Á. Pérez Martín, M.A. Mora Menezo, A. Avellaneda Fernández, E. Gutiérrez Delgado, E. Vejo Puente, A.B. García Garrido   +6 more
openaire   +1 more source