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Publications by Alexis Ruiz

Characterization of an Animal Model for Congenital Myopathies Linked to Recessive RyR1 Mutations

Biophysical Journal

English

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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

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Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

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Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

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Motor Function Performance in Individuals With RYR1 ‐Related Myopathies

Muscle and Nerve

Molecular Neuroscience

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Heart Hypoplasia in an Animal Model of Congenital Diaphragmatic Hernia

Revista do Hospital das Clínicas

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Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

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Steroid 21-Hydroxylase Deficiency in Mice. An Animal Model for Congenital Adrenal Hyperplasia.

Proceedings of The Japanese Association of Animal Models for Human Diseases

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Gene Therapy in Monogenic Congenital Myopathies

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X Linked Recessive Thrombocytopenia.

Journal of Medical Genetics

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