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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
D'Apice MR, Novelli A, di Masi A, Biancolella M, Antoccia A, Gullotta F, Licata N, Minella D, Testa B, Nardone AM, Palmieri G, Calabrese E, Biancone L, Tanzarella C, Frontali M, Sangiuolo F, Novelli G, Pallone F. D'Apice MR, et al. Among authors: novelli g, novelli a. BMC Med Genet. 2015 Apr 2;16:20. doi: 10.1186/s12881-015-0164-3. BMC Med Genet. 2015. PMID: 25927938 Free PMC article.
DNA markers in diagnosis of adult dominant polycystic kidney disease.
Veneziano L, D'Angelo AR, Burrai L, Perugia G, Gentile V, Potenza L, Iampieri MP, Novelletto A, Novelli G, Frontali M. Veneziano L, et al. Among authors: novelli g. Eur Urol. 1992;21 Suppl 1:57-9. doi: 10.1159/000474892. Eur Urol. 1992. PMID: 1425839
The up-to-date molecular genetics of cystic fibrosis.
Novelli G, Sangiuolo F, Maceratesi P, Dallapiccola B. Novelli G, et al. Biomed Pharmacother. 1994;48(10):455-63. doi: 10.1016/0753-3322(94)90006-x. Biomed Pharmacother. 1994. PMID: 7532022 Review. No abstract available.
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. Sangiuolo F, et al. Among authors: novelli g. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215406
1,195 results