Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

931 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P. Cutillo G, et al. Among authors: giordano l. Epilepsia Open. 2024 Feb;9(1):106-121. doi: 10.1002/epi4.12837. Epub 2023 Nov 27. Epilepsia Open. 2024. PMID: 37842880 Free PMC article.
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.
Gennaro E, Malacarne M, Carbone I, Riggio MC, Bianchi A, Bonanni P, Boniver C, Dalla Bernardina B, De Marco P, Giordano L, Guerrini R, Santorum E, Sebastianelli R, Vecchi M, Veggiotti P, Vigevano F, Bricarelli FD, Zara F. Gennaro E, et al. Among authors: giordano l. Epilepsia. 1999 Dec;40(12):1799-803. doi: 10.1111/j.1528-1157.1999.tb01601.x. Epilepsia. 1999. PMID: 10612347 Free article.
Crisponi syndrome: report of a further patient.
Accorsi P, Giordano L, Faravelli F. Accorsi P, et al. Among authors: giordano l. Am J Med Genet A. 2003 Dec 1;123A(2):183-5. doi: 10.1002/ajmg.a.20292. Am J Med Genet A. 2003. PMID: 14598344
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L. Giardino D, et al. Among authors: giordano l. BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146. BMC Med Genet. 2010. PMID: 20939888 Free PMC article.
Familial Ohtahara syndrome due to a novel ARX gene mutation.
Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD. Giordano L, et al. Am J Med Genet A. 2010 Dec;152A(12):3133-7. doi: 10.1002/ajmg.a.33701. Am J Med Genet A. 2010. PMID: 21108397 Free article.
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, Giordano L, Accorsi P, Di Rosa G, Toldo I, Zamponi N, Darra F, Dalla Bernardina B, Perilongo G, Boniver C, Murgia A. Sartori S, et al. Among authors: giordano l. J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11. J Child Neurol. 2011. PMID: 21482751
931 results