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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 2
2017 1
2018 1
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Risk factors associated with complications/sequelae of acute and subacute haematogenous osteomyelitis: an Italian multicenter study.
Chiappini E, Krzysztofiak A, Bozzola E, Gabiano C, Esposito S, Lo Vecchio A, Govoni MR, Vallongo C, Dodi I, Castagnola E, Rossi N, Valentini P, Cardinale F, Salvini F, Bona G, Bossi G, Olivieri AN, Russo F, Fossali E, Bottone G, Dellepiane M, De Martino M, Villani A, Galli L. Chiappini E, et al. Among authors: bottone g. Expert Rev Anti Infect Ther. 2018 Apr;16(4):351-358. doi: 10.1080/14787210.2018.1453357. Epub 2018 Mar 29. Expert Rev Anti Infect Ther. 2018. PMID: 29569505
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study.
Raucci U, Parisi P, Vanacore N, La Penna F, Ferro V, Calistri L, Bondone C, Midulla F, Suppiej A, Falsaperla R, Cordelli DM, Palmieri A, Verrotti A, Becciani S, Aguzzi S, Mastrangelo M, Pelizza F, Greco F, Carbonari G, Tallone R, Bottone G, Trenta I, Masi S, Villa MP, Reale A. Raucci U, et al. Among authors: bottone g. Eur J Paediatr Neurol. 2017 Sep;21(5):722-729. doi: 10.1016/j.ejpn.2017.05.010. Epub 2017 Jun 3. Eur J Paediatr Neurol. 2017. PMID: 28625338
Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis.
Galli L, Lancella L, Tersigni C, Venturini E, Chiappini E, Bergamini BM, Codifava M, Venturelli C, Tosetti G, Marabotto C, Cursi L, Boccuzzi E, Garazzino S, Tovo PA, Pinon M, Le Serre D, Castiglioni L, Lo Vecchio A, Guarino A, Bruzzese E, Losurdo G, Castagnola E, Bossi G, Marseglia GL, Esposito S, Bosis S, Grandolfo R, Fiorito V, Valentini P, Buonsenso D, Domenici R, Montesanti M, Salvini FM, Riva E, Dodi I, Maschio F, Abbagnato L, Fiumana E, Fornabaio C, Ballista P, Portelli V, Bottone G, Palladino N, Valenzise M, Vecchi B, Di Gangi M, Lupi C, Villani A, de Martino M. Galli L, et al. Among authors: bottone g. Int J Mol Sci. 2016 Jun 17;17(6):960. doi: 10.3390/ijms17060960. Int J Mol Sci. 2016. PMID: 27322255 Free PMC article.