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183 results

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Page 1
Deep neurological phenotyping in oculo-dento-digital syndrome.
Lopriore P, Vista M, Maritato P, Caldarazzo Ienco E, Bassani L, Natale G, Tessa A, Santorelli FM, Orsucci D. Lopriore P, et al. Among authors: tessa a. Neurol Sci. 2024 Jun;45(6):2853-2857. doi: 10.1007/s10072-024-07331-z. Epub 2024 Jan 23. Neurol Sci. 2024. PMID: 38253744
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: tessa a. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414
OXPHOS and mtDNA alterations in a family with spastic paraparesis.
Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: tessa a. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522
Multiple mtDNA deletions: clinical and molecular correlations.
Santorelli FM, De Joanna G, Casali C, Tessa A, Siciliano G, Amabile GA, Pierelli F, Vilarinho L, Santoro L. Santorelli FM, et al. Among authors: tessa a. J Inherit Metab Dis. 2000 Mar;23(2):155-61. doi: 10.1023/a:1005617916260. J Inherit Metab Dis. 2000. PMID: 10801057
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM. Giannotti A, et al. Among authors: tessa a. Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10980549 No abstract available.
The emerging concept of mitochondrial cardiomyopathies.
Santorelli FM, Tessa A, D'amati G, Casali C. Santorelli FM, et al. Among authors: tessa a. Am Heart J. 2001 Jan;141(1):E1. doi: 10.1067/mhj.2001.112088. Am Heart J. 2001. PMID: 11136504 Review.
183 results