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
1991 1
1993 1
1997 1
2002 1
2003 1
2004 1
2005 3
2006 2
2007 1
2008 1
2010 1
2011 1
2012 1
2013 1
2014 1
2015 2
2016 5
2017 7
2018 3
2019 2
2021 4
2022 5
2023 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

46 results

Results by year

Filters applied: . Clear all
Page 1
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: abu libdeh b. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Lin X, Wang W, Yang M, Damseh N, de Sousa MML, Jacob F, Lång A, Kristiansen E, Pannone M, Kissova M, Almaas R, Kuśnierczyk A, Siller R, Shahrour M, Al-Ashhab M, Abu-Libdeh B, Tang W, Slupphaug G, Elpeleg O, Bøe SO, Eide L, Sullivan GJ, Rinholm JE, Song H, Ming GL, van Loon B, Edvardson S, Ye J, Bjørås M. Lin X, et al. Among authors: abu libdeh b. Genome Biol. 2023 Sep 29;24(1):216. doi: 10.1186/s13059-023-03037-1. Genome Biol. 2023. PMID: 37773136 Free PMC article.
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.
Shahroor MA, Lasorsa FM, Porcelli V, Dweikat I, Di Noia MA, Gur M, Agostino G, Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, Abu-Libdeh B, Elpeleg O, Palmieri L. Shahroor MA, et al. Among authors: abu libdeh b. J Clin Endocrinol Metab. 2022 Apr 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. J Clin Endocrinol Metab. 2022. PMID: 34971397
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Abu-Libdeh B, Jhujh SS, Dhar S, Sommers JA, Datta A, Longo GM, Grange LJ, Reynolds JJ, Cooke SL, McNee GS, Hollingworth R, Woodward BL, Ganesh AN, Smerdon SJ, Nicolae CM, Durlacher-Betzer K, Molho-Pessach V, Abu-Libdeh A, Meiner V, Moldovan GL, Roukos V, Harel T, Brosh RM Jr, Stewart GS. Abu-Libdeh B, et al. J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301. J Clin Invest. 2022. PMID: 35025765 Free PMC article.
Orbital nodular fasciitis in child with biallelic germline RBL2 variant.
Rips J, Abu-Libdeh B, Koplewitz BZ, Kehat-Ophir S, Frenkel S, Elpeleg O, Harel T. Rips J, et al. Among authors: abu libdeh b. Eur J Med Genet. 2022 Jun;65(6):104513. doi: 10.1016/j.ejmg.2022.104513. Epub 2022 Apr 26. Eur J Med Genet. 2022. PMID: 35487417
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. Among authors: abu libdeh b. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
46 results