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

10 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. Almeida LS, et al. Among authors: urzi a. Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25. Eur J Hum Genet. 2022. PMID: 35614200 Free PMC article.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: urzi a. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Teaching transposon classification as a means to crowd source the curation of repeat annotation - a tardigrade perspective.
Peona V, Martelossi J, Almojil D, Bocharkina J, Brännström I, Brown M, Cang A, Carrasco-Valenzuela T, DeVries J, Doellman M, Elsner D, Espíndola-Hernández P, Montoya GF, Gaspar B, Zagorski D, Hałakuc P, Ivanovska B, Laumer C, Lehmann R, Boštjančić LL, Mashoodh R, Mazzoleni S, Mouton A, Nilsson MA, Pei Y, Potente G, Provataris P, Pardos-Blas JR, Raut R, Sbaffi T, Schwarz F, Stapley J, Stevens L, Sultana N, Symonova R, Tahami MS, Urzì A, Yang H, Yusuf A, Pecoraro C, Suh A. Peona V, et al. Among authors: urzi a. Mob DNA. 2024 May 6;15(1):10. doi: 10.1186/s13100-024-00319-8. Mob DNA. 2024. PMID: 38711146 Free PMC article.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: urzi a. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
Self-Organizing 3D Human Trunk Neuromuscular Organoids.
Faustino Martins JM, Fischer C, Urzi A, Vidal R, Kunz S, Ruffault PL, Kabuss L, Hube I, Gazzerro E, Birchmeier C, Spuler S, Sauer S, Gouti M. Faustino Martins JM, et al. Among authors: urzi a. Cell Stem Cell. 2020 Sep 3;27(3):498. doi: 10.1016/j.stem.2020.08.011. Cell Stem Cell. 2020. PMID: 32888426 Free article. No abstract available.
Self-Organizing 3D Human Trunk Neuromuscular Organoids.
Faustino Martins JM, Fischer C, Urzi A, Vidal R, Kunz S, Ruffault PL, Kabuss L, Hube I, Gazzerro E, Birchmeier C, Spuler S, Sauer S, Gouti M. Faustino Martins JM, et al. Among authors: urzi a. Cell Stem Cell. 2020 Feb 6;26(2):172-186.e6. doi: 10.1016/j.stem.2019.12.007. Epub 2020 Jan 16. Cell Stem Cell. 2020. PMID: 31956040 Free article.
Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules.
Grison A, Zucchelli S, Urzì A, Zamparo I, Lazarevic D, Pascarella G, Roncaglia P, Giorgetti A, Garcia-Esparcia P, Vlachouli C, Simone R, Persichetti F, Forrest AR, Hayashizaki Y, Carloni P, Ferrer I, Lodovichi C, Plessy C; FANTOM Consortium; Carninci P, Gustincich S. Grison A, et al. Among authors: urzi a. BMC Genomics. 2014 Aug 27;15(1):729. doi: 10.1186/1471-2164-15-729. BMC Genomics. 2014. PMID: 25164183 Free PMC article.