Abu-Libdeh B - Search Results

1

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. Bargal R, et al. Mol Genet Metab. 2006 Aug;88(4):359-63. doi: 10.1016/j.ymgme.2006.03.003. Epub 2006 Apr 21. Mol Genet Metab. 2006. PMID: 16630736

2

Aspartylglucosaminuria among Palestinian Arabs.

Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M. Zlotogora J, et al. J Inherit Metab Dis. 1997 Nov;20(6):799-802. doi: 10.1023/a:1005371802085. J Inherit Metab Dis. 1997. PMID: 9427148

3

Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.

Dweikat I, Sultan M, Maraqa N, Hindi T, Abu-Rmeileh S, Abu-Libdeh B. Dweikat I, et al. Am J Med Genet A. 2007 Mar 15;143A(6):581-3. doi: 10.1002/ajmg.a.31583. Am J Med Genet A. 2007. PMID: 17236206

4

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.

Ung DC, Pietrancosta N, Badillo EB, Raux B, Tapken D, Zlatanovic A, Doridant A, Pode-Shakked B, Raas-Rothschild A, Elpeleg O, Abu-Libdeh B, Hamed N, Papon MA, Marouillat S, Thépault RA, Stevanin G, Elegheert J, Letellier M, Hollmann M, Lambolez B, Tricoire L, Toutain A, Hepp R, Laumonnier F. Ung DC, et al. Among authors: abu libdeh b. Mol Psychiatry. 2024 Feb 28. doi: 10.1038/s41380-024-02469-w. Online ahead of print. Mol Psychiatry. 2024. PMID: 38418578

5

Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease.

Ayesh S, Abu-Rmaileh H, Nassar S, Al-Shareef W, Abu-Libdeh B, Muhanna A, Al-Kafri F. Ayesh S, et al. Scand J Rheumatol. 2008 Sep-Oct;37(5):370-4. doi: 10.1080/03009740801998788. Scand J Rheumatol. 2008. PMID: 18609258

6

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

Melchionda L, Damseh NS, Abu Libdeh BY, Nasca A, Elpeleg O, Zanolini A, Ghezzi D. Melchionda L, et al. Front Genet. 2014 Nov 14;5:397. doi: 10.3389/fgene.2014.00397. eCollection 2014. Front Genet. 2014. PMID: 25452764 Free PMC article.

7

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762

8

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.

9

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O. Edvardson S, et al. J Med Genet. 2017 Mar;54(3):196-201. doi: 10.1136/jmedgenet-2016-104202. Epub 2016 Sep 30. J Med Genet. 2017. PMID: 27694521

10

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

Edvardson S, Tian G, Cullen H, Vanyai H, Ngo L, Bhat S, Aran A, Daana M, Da'amseh N, Abu-Libdeh B, Cowan NJ, Heng JI, Elpeleg O. Edvardson S, et al. Hum Mol Genet. 2016 Nov 1;25(21):4635-4648. doi: 10.1093/hmg/ddw292. Hum Mol Genet. 2016. PMID: 28158450 Free PMC article.

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