Articles avec mandats d'accès public - Francesco CaroliEn savoir plus
Non disponible : 1
SAT0484 Prevalence of Cecr1 Mutations in Pediatric Patients with Polyarteritis Nodosa, Livedo Reticularis and/or Stroke
R Caorsi, A Grossi, A Insalaco, M Alessio, S Martino, E Cortis, A Morreale, ...
Annals of the Rheumatic Diseases 74 (Suppl 2), 835-835, 2015
Exigences : US National Institutes of Health
Disponibles quelque part : 12
Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
S Borghini, S Tassi, S Chiesa, F Caroli, S Carta, R Caorsi, M Fiore, ...
Arthritis & Rheumatism 63 (3), 830-839, 2011
Exigences : Fondazione Telethon, Italy
Long‐term clinical profile of children with the low‐penetrance R92Q mutation of the TNFRSF1A gene
MA Pelagatti, A Meini, R Caorsi, M Cattalini, S Federici, F Zulian, ...
Arthritis & Rheumatism 63 (4), 1141-1150, 2011
Exigences : Fondazione Telethon, Italy
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
M Rusmini, S Federici, F Caroli, A Grossi, M Baldi, L Obici, A Insalaco, ...
Annals of the rheumatic diseases 75 (8), 1550-1557, 2016
Exigences : Government of Italy
Genotype-phenotype correlations in neurofibromatosis type 1: a single-center cohort study
M Scala, I Schiavetti, F Madia, C Chelleri, G Piccolo, A Accogli, A Riva, ...
Cancers 13 (8), 1879, 2021
Exigences : Government of Italy
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus
A Steiner, T Reygaerts, A Pontillo, I Ceccherini, J Moecking, F Moghaddas, ...
Journal of clinical immunology, 1-11, 2022
Exigences : Fundação de Amparo à Pesquisa do Estado de São Paulo, Howard Hughes Medical …
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene
S Borghini, M Fiore, M Di Duca, F Caroli, M Finetti, G Santamaria, F Ferlito, ...
The Journal of Rheumatology 38 (7), 1378-1384, 2011
Exigences : Fondazione Telethon, Italy
Targeted NGS yields plentiful ultra-rare variants in inborn errors of immunity patients
A Grossi, M Miano, M Lanciotti, F Fioredda, D Guardo, E Palmisani, ...
Genes 12 (9), 1299, 2021
Exigences : Government of Italy
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213
M Ognibene, M Scala, M Iacomino, I Schiavetti, F Madia, M Traverso, ...
Cancers 15 (6), 1916, 2023
Exigences : Government of Italy
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia
C Aloi, A Salina, F Caroli, R Bocciardi, B Tappino, M Bassi, N Minuto, ...
Life 13 (5), 1080, 2023
Exigences : Government of Italy
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course
C Croci, M Traverso, S Baratto, M Iacomino, M Pedemonte, F Caroli, ...
Acta Myologica 41 (3), 111, 2022
Exigences : Government of Italy
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
A Grossi, F Morelli, M Di Duca, F Caroli, I Moroni, D Tonduti, T Bachetti, ...
Frontiers in Genetics 12, 744068, 2021
Exigences : Government of Italy
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients. Genes 2021, 12, 1299
A Grossi, M Miano, M Lanciotti, F Fioredda, D Guardo, E Palmisani, ...
s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021
Exigences : Government of Italy
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