Alvaro Hermida-Ameijeiras
0000-0003-3757-262X
4 papers found
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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson–Fabry Disease
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
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