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Publications by Isabella Ceccherini
A Novel Knock-In Mouse Model of CAPS That Develops Amyloidosis: Therapeutic Efficacy of Proton Pump Inhibitors
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Causative and Common PHOX2B Variants Define a Broad Phenotypic Spectrum
Clinical Genetics
Genetics
Desogestrel Down-Regulates Phox2b and Its Target Genes in Progesterone Responsive Neuroblastoma Cells
Experimental Cell Research
Cell Biology
A Validation of Diagnostic Score for Molecular Analysis of Hereditary Autoinflammatory Syndromes With Periodic Fever in Turkish Children
Pediatric Rheumatology
Immunology
Pediatrics
Rheumatology
Allergy
Perinatology
Child Health
LPIN2 Gene Mutation in a Patient With Overlapping Neutrophilic Disease (Pyoderma Gangrenosum and Aseptic Abscess Syndrome)
JAAD Case Reports
Dermatology
Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
MVK Mutations and Associated Clinical Features in Italian Patients Affected With Autoinflammatory Disorders and Recurrent Fever
European Journal of Human Genetics
Genetics
Comparative Genomic Sequence Analysis Coupled to Chromatin Immunoprecipitation: A Screening Procedure Applied to Search for Regulatory Elements at theRETlocus
Physiological Genomics
Genetics
Physiology