Results 101 to 110 of about 18,719 (141)

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

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype. [PDF]

Rev Neurol, 2023
Barreto-Mota R, Figueirinha J, Quental R, Fonseca J, Melo C, Sampaio M, Sousa R.   +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

Multiple cardiac rhabdomyomas, prenatal diagnosis. Case report [PDF]

Arch Cardiol Mex, 2022
Carrillo-Lima T, Pacheco-López SL, Castro-Santiago PL, Oseguera-Torres LF.   +3 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

La regulación jurídica de la manipulación genética [PDF]

, 1999
García Miranda, Carmen María
core  

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

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

, 1996
Baiget Bastús, Monserrat
core  

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

The role of the Latin American Professional Society of Genetic Counseling (SPLAGen): Advancing genetic counseling in Latin America. [PDF]

Genet Med Open
Diaz Caro D, Simone L.
europepmc   +1 more source