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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Among authors: bizzari s. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442
Expanded PCH1D phenotype linked to EXOSC9 mutation.
Bizzari S, Hamzeh AR, Mohamed M, Al-Ali MT, Bastaki F. Bizzari S, et al. Eur J Med Genet. 2020 Jan;63(1):103622. doi: 10.1016/j.ejmg.2019.01.012. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690203
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. Bizzari S, et al. Metab Brain Dis. 2017 Dec;32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5. Metab Brain Dis. 2017. PMID: 28875386
SOX11-related syndrome: report on a new case and review.
Wakim V, Nair P, Delague V, Bizzari S, Al-Ali MT, Castro C, Gambarini A, El-Hayek S, Megarbane A. Wakim V, et al. Among authors: bizzari s. Clin Dysmorphol. 2021 Jan;30(1):44-49. doi: 10.1097/MCD.0000000000000348. Clin Dysmorphol. 2021. PMID: 33086258 Review. No abstract available.
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. Among authors: bizzari s. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
16 results