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List of works by L Gonzalez-Quereda

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

scientific article published on 13 July 2018

A new phenotype of dysferlinopathy with congenital onset.

scientific article

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

scientific article

Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern

scientific article published on 12 May 2020

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

scientific article

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

article

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

scientific article

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

scientific article published on 08 December 2018

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

scientific article published on 22 October 2015

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

scientific article published on 8 March 2016

Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease

scientific article published on 04 December 2020

Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients

scientific article published on 11 August 2020

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

scientific article published on 05 October 2019

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

scientific article published on 11 May 2020

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