Results 111 to 120 of about 3,890 (186)

[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]

Rev Med Inst Mex Seguro Soc
González-Morales IJ, Olivera-Bernal GC, León-González C DA, Rosas-Vargas H.   +3 more
europepmc   +1 more source

Impaired splicing machinery in craniopharyngiomas unveils PRPF8 and RAVER1 as novel biomarkers and therapeutic targets. [PDF]

Acta Neuropathol Commun
Fuentes-Fayos AC, G-García ME, Sánchez-Medianero T, Apps J, Flores-Martínez Á, De la Rosa-Herencia AS, Gil-Duque I, Otto G, Venegas-Moreno E, Ruiz-Valdepeñas EC, Herrera-Martínez AD, Solivera J, Gahete MD, Cano DA, Ortega R, Soto-Moreno A, Gálvez-Moreno MA, Martínez-Barberá JP, Luque RM.   +18 more
europepmc   +1 more source

Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications. [PDF]

Cancers (Basel)
Ramírez Maldonado V, Navas Acosta J, Maldonado Marcos I, Villaverde Ramiro Á, Hernández-Sánchez A, Hernández Rivas JM, Benito Sánchez R.   +6 more
europepmc   +1 more source

Herencia y cáncer

, 2017
El cáncer es una de las patologías con mayor incidencia en la sociedad actual. Se trata de una enfermedad multifactorial que puede desarrollarse como un hecho esporádico o de carácter hereditario. En este trabajo, se analizan los síndromes hereditarios que pueden conllevar al desarrollo de un cáncer de mama o de colon, sus variantes, así como la ...
openaire   +1 more source

Genetic and radiological aspects of pediatric renal cystic disease: A case series [PDF]

Biomedica
Pacheco-Orozco RA, Forero-Delgadillo JM, Ochoa V, Toro JS, Pachajoa H, Restrepo JM.   +5 more
europepmc   +1 more source

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence]. [PDF]

Rev Neurol
Del Arco-Guzmán N, Lobato-López S, Calvo-Medina R, Vera-Medialdea R, Ruiz-Pérez C, Ramos-Fernández JM.   +5 more
europepmc   +1 more source

Herencia de Baroja

, 2007
ESP
openaire   +1 more source

Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function [PDF]

Biomedica
Valerio-Gómez V, Pérez-Blanco U, Velázquez-Sámano G, Velasco-Medina AA, Albarrán A, Sánchez IY, Berrón-Ruiz L, Espinosa-Padilla S, Blancas-Galicia L.   +8 more
europepmc   +1 more source

[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

Identification of a variant in the USH1G gene in a family with Usher syndrome [PDF]

Biomedica
Gélvez N, López G, Tamayo ML.
europepmc   +1 more source