Results 101 to 110 of about 135,809 (156)

[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

¿Puede ser donante de órganos un paciente con enfermedad de Pompe?

Nefrología, 2014
Morales-Ruiz, Enrique, Gutiérrez-Martínez, Eduardo, Cordero, Carolina, González-Monte, Esther, Hernández-Martínez, Eduardo, Praga-Terente, Manuel, Andrés-Belmonte, Amado   +6 more
openaire   +4 more sources

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

Enfermedad de pompe: protocolo diagnóstico por el laboratorio clínico

, 2012
Texto completo descargado desde ...
openaire   +2 more sources

Genetic epidemiology of single gene defects in Chile. [PDF]

J Med Genet, 1994
Cruz-Coke R, Moreno RS.
europepmc   +1 more source

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease. [PDF]

Nutrients
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J.   +17 more
europepmc   +1 more source

In vitro expanded human CD4+CD25+ regulatory T cells suppress effector T cell proliferation. [PDF]

Clin Immunol, 2005
Earle KE, Tang Q, Zhou X, Liu W, Zhu S, Bonyhadi ML, Bluestone JA.   +6 more
europepmc   +1 more source