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Publications by Francesc Roca-Ribas

In Vitro Antisense Therapeutics for a Deep Intronic Mutation Causing Neurofibromatosis Type 2

European Journal of Human Genetics

English

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Deep Intronic GPR143 Mutation in a Japanese Family With Ocular Albinism

Scientific Reports

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Neurofibromatosis Type 2

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NOVEL Intronic CAPN3 Roma Mutation Alters Splicing Causing RNA Mediated Decay

Annals of Clinical and Translational Neurology

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A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.

Acta Biochimica Polonica

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Familial Wilms Tumour Resulting From WT1 Mutation: Intronic Polymorphism Causing Artefactual Constitutional Homozygosity

Journal of Medical Genetics

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Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease-Causing Point Mutations

American Journal of Human Genetics

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A Case of Neurofibromatosis Type 2 With Glossal Neurilemoma.

Japanese Journal of Oral & Maxillofacial Surgery

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Giant Plexiform Neurofibroma Causing Asymptomatic Cervical Spinal Cord Compression in a Child With Neurofibromatosis Type 1

BMJ Case Reports

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A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia

Circulation. Genomic and precision medicine

Cardiovascular Medicine

English