Results 111 to 120 of about 18,841 (159)

Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review. [PDF]

Ecancermedicalscience
Martin FJ, Saffie IM, Hurtado MA, Avila-Jaque D, Lagos RA, Selman CA, Huserman JZ, Castillo VA, Chahuán BJ.   +8 more
europepmc   +1 more source

Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital [PDF]

Biomedica
Berriozábal-Villarruel X, Godínez-Zamora GF, Baeza-Capetillo P, Pérez-Blanco U, Espinosa-Padilla SE, Aguirre-Hernández J, Blancas-Galicia L, Saucedo-Ramírez OJ.   +7 more
europepmc   +1 more source

[Inequalities in time to diagnosis of Down Syndrome in Bolivia]. [PDF]

Salud Colect
Linares Terrazas D, Luna Barrón B, Taboada López G.   +2 more
europepmc   +1 more source

Contribución de la genética molecular al diagnóstico de enfermedades monogénicas [PDF]

, 1996
Baiget Bastús, Monserrat
core  

Estudio comparativo de cuatro analizadores diferentes para la evaluación prenatal del riesgo de trisomía 21. [PDF]

Adv Lab Med
García-Simón N, Martínez-Payo C, Bernabeu-Andreu FA, Donoso-Navarro E.   +3 more
europepmc   +1 more source

Las bases moleculares de la hemofilia A [PDF]

, 1996
Tizzano, Eduardo F.
core  

XXVI Reunión Anual de la Sociedad Extremeña de Neurología. Comunicaciones Orales y Póster. [PDF]

Rev Neurol
europepmc   +1 more source

[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report]. [PDF]

Rev Med Inst Mex Seguro Soc
Crisanto-López IE, García-González R, Saldaña-Guerrero MP, Hernández-Camacho RM, Castro-Coyotl DM.   +4 more
europepmc   +1 more source

Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency [PDF]

Biomedica
Gutiérrez-Hincapié S, Orrego JC, Franco JL, Trujillo-Vargas CM.   +3 more
europepmc   +1 more source