Results 91 to 100 of about 1,310 (142)

[Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report]. [PDF]

Rev Neurol
Hernández Yeneris SM, González-Solano MA, Lince-Rivera I, Rojas-Martínez JA, Ramón-Gómez JL.   +4 more
europepmc   +1 more source

XIX Reunión Anual de la Asociación Madrileña de Neurología. Comunicaciones.

Rev Neurol, 2022
europepmc   +1 more source

World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2022). [PDF]

Aging Clin Exp Res, 2022
europepmc   +1 more source

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review. [PDF]

Cureus
Nunes Campos L, Davila Rivera I, Ibañez Alegre DM, Del Puerto González FN, Garrido San Juan M, Fernandez Zelcer F, Borgobello D, Gerk A, Sosa LF, Miretti MM, Stegmann J, Argüelles CF.   +11 more
europepmc   +1 more source

Predictors of Early Mortality in Cancer-Associated Thrombosis: Analysis of the RIETE Database. [PDF]

TH Open, 2018
Tafur AJ, Fuentes H, Caprini JA, Rivas A, Uresandi F, Duce R, Lopez-Reyes R, Visona A, Merah A, Monreal M.   +9 more
europepmc   +1 more source

[Rare diseases in a medical genetics service of population with social security]. [PDF]

Rev Med Inst Mex Seguro Soc
Jiménez-Pérez B, Juárez-Melchor D, Guzmán-Santiago AA, Sánchez-Ortega A, Vera-Loaiza A, Flores-Martínez C, Aguilar-Cózatl I.   +6 more
europepmc   +1 more source

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare environments and concerns. [PDF]

Orphanet J Rare Dis, 2014
Žnidar I, Collin-Histed T, Niemeyer P, Parkkinen J, Lauridsen AG, Zariņa S, Cohen Y, Manuel J.   +7 more
europepmc   +1 more source

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]

Rev Neurol
Ros-Arlanzón P, Pelegrín-Durá L, Aledo-Sala C, Moreno-Navarro L, Vaamonde-Esteban Y, Muñoz-Ambit A, Sánchez-Pérez R, Díaz-Marín C.   +7 more
europepmc   +1 more source

Ojo y piel [PDF]

EMC - Dermatología, 2006
Michel J, Thuret G.
europepmc   +1 more source