Results 61 to 70 of about 393 (115)

[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

Multilocus inherited neoplasia allele syndrome: report of uncommon combinations between CHEK2/ATM and BRCA1/CDKN2A genes. [PDF]

Ecancermedicalscience
Ubilla R, Zeppelin M, Martin F.
europepmc   +1 more source

Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes. [PDF]

Adv Lab Med
Bastida-Lertxundi N, Martí-Carrera I, Laña-Ruíz B, Martínez-Múgica Barbosa O, Muguerza-Iraola R, Sáez-Villaverde R, Crettaz JS.   +6 more
europepmc   +1 more source

[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion]. [PDF]

Rev Neurol
Arroyo-Carrera I, Romero-Peguero R, Martín-Fernández R, Ramajo-Polo A, García-Navas Núñez V.   +4 more
europepmc   +1 more source

Implementación del ADN libre circulante para la detección de aneuploidías fetales. [PDF]

Adv Lab Med
Madrigal Bajo I, Jodar Bifet M, Badenas Orquin C.   +2 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

[Spinal Muscular Atrophy: The Reality of the Adult Patient in Spain]. [PDF]

Rev Neurol
Cattinari MG, De Lemus M, Dumont M, Tizzano E.   +3 more
europepmc   +1 more source

A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data. [PDF]

Clin Case Rep, 2020
López M, Pérez-Grijalba V, García-Cobaleda I, Domínguez-Garrido E.   +3 more
europepmc   +1 more source

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