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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 1

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43 results

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Page 1
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
Propionic acidemia mimicking diabetic ketoacidosis.
Dweikat IM, Naser EN, Abu Libdeh AI, Naser OJ, Abu Gharbieh NN, Maraqa NF, Abu Libdeh BY. Dweikat IM, et al. Among authors: abu libdeh by. Brain Dev. 2011 May;33(5):428-31. doi: 10.1016/j.braindev.2010.06.016. Epub 2010 Jul 14. Brain Dev. 2011. PMID: 20634010
Aspartylglucosaminuria among Palestinian Arabs.
Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M. Zlotogora J, et al. Among authors: abu libdeh by. J Inherit Metab Dis. 1997 Nov;20(6):799-802. doi: 10.1023/a:1005371802085. J Inherit Metab Dis. 1997. PMID: 9427148
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
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 H, 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 Jul 17:awad235. doi: 10.1093/brain/awad235. Online ahead of print. Brain. 2023. PMID: 37459438
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.
43 results