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Neurology|August 31, 2023
Plasma Biomarker Profile and Clinical Correlations in Adult Patients With Tuberous Sclerosis ComplexBiagio Orlando, Alessandra Morano, Valeria Manzini, et al.
Journal of Clinical Medicine|July 27, 2022
Similar Levels of Efficacy of Two Different Maintenance Doses of Adalimumab on Clinical Severity and Quality of Life of Patients with Hidradenitis SuppurativaLuca Fania, Giulia Giovanardi, Tonia Samela, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Genes|September 7, 2019
Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart DiseaseValentina Pinna, Paola Daniele, Giulio Calcagni, et al.
Breast (Edinburgh, Scotland)|November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancerNiccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
Expert Opinion on Biological Therapy|November 20, 2020
Characteristic of chronic plaque psoriasis patients treated with biologics in Italy during the COVID-19 Pandemic: Risk analysis from the PSO-BIO-COVID observational studyMarina Talamonti, Marco Galluzzo, Andrea Chiricozzi, et al.
Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
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