Suchergebnisse - "Marta Codina-Solà"

1

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows

von: John N. Milligan

2022, in: Genes

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2

The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era

von: Eulàlia Rovira-Moreno

2023, in: Genetics in Medicine Open

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3

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with

von: Daniel Sánchez-Tejerina

2022, in: Genes

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4

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G

von: Laura Blasco-Pérez

2022, in: International Journal of Molecular Sciences

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5

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

von: Guillem de Valles-Ibáñez

2018, in: Frontiers in Immunology

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