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Publications by Raquel Planas
Recurrent Inflammatory Disease Caused by a Heterozygous Mutation in CD48
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Long-Term Safety and Efficacy of Natalizumab in Relapsing-Remitting Multiple Sclerosis: Impact on Quality of Life
Patient Related Outcome Measures
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Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred
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Charcot-Marie-Tooth Disease Type 2 Caused by Homozygous MME Gene Mutation Superimposed by Chronic Inflammatory Demyelinating Polyneuropathy
Clinical Neurology
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Clinical and Genetic Analysis of ZTTK Syndrome Caused by SON Heterozygous Mutation C.394C>T
Molecular genetics & genomic medicine
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Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation
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Adnexal Masses Caused by Pelvic Inflammatory Disease: MR Appearance
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Recurrent and Persistent Cytomegalovirus Infection in a Kidney Recipient Caused by the L595S Mutation in UL97 Phosphotransferase Gene
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A C-Terminal Amino Acid Substitution in the Γ-Chain Caused by a Novel Heterozygous Frameshift Mutation (Fibrinogen Matsumoto VII) Results in Hypofibrinogenaemia
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Recurrent Postcoital Fixed Drug Eruption Caused by Co-Trimoxazole Mimicking a Sexually Induced Disease
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A Family With Danon Disease Caused by a Splice Site Mutation in LAMP2 That Generates a Truncated Protein
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