Francisco Martínez-Azorín
12PUBLICATIONS
28CO-AUTHORS
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Publications (12)
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|Sep 30, 2025
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, María Martín-Cazaña
|Feb 15, 2024
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu
|Apr 18, 2023
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N Olson
|Jun 26, 2022
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci
|Jun 10, 2020
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín
|Mar 22, 2020
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María de Los Ángeles Gómez-Cano
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Frequent Collaborators
2 joint publications
Bert B A de Vries
2 joint publications
Elena Martín-Hernández
2 joint publications
Francisco Javier Cotrina-Vinagre
2 joint publications
María Elena Rodríguez-García
1 joint publications
Mythily Ganapathi
1 joint publications
Loukas Argyriou
1 joint publications
Montserrat Morales-Conejo
1 joint publications
Gökhan Yigit
1 joint publications
Teresa M Lee
1 joint publications
Alexander von Gise
