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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380.
Brain. 2024.
PMID: 37951597
Free PMC article.
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, Assaf N, Segal I, Abed El Rahim H, Shapira H, Urian D, Tzur S, Douiev L, Saada A.
Shalata A, et al. Among authors: mahroum m.
Neurochem Res. 2019 Oct;44(10):2372-2384. doi: 10.1007/s11064-019-02786-5. Epub 2019 Apr 9.
Neurochem Res. 2019.
PMID: 30968303
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[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Hadid Y, Daher Z, Mahroum M, Shalata A, Nakhleh Francis Y, Shalata H, Broneshter Vinter R, Ziv M, Furman C, Ali V, Levitaz J, Shalata A.
Hadid Y, et al. Among authors: mahroum m.
Harefuah. 2023 Jun;162(6):352-358.
Harefuah. 2023.
PMID: 37394436
Hebrew.
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Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A, Bar-Shai M, Hadid Y, Mahroum M, Mintz H, Shalata ZE, Radzishevsky E, Genizi J, Lorber A, Ben-Yosef T, Yaniv L.
Shalata A, et al. Among authors: mahroum m.
Genes (Basel). 2023 Jul 27;14(8):1539. doi: 10.3390/genes14081539.
Genes (Basel). 2023.
PMID: 37628591
Free PMC article.
Review.
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Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y.
Shalata A, et al. Among authors: mahroum m.
J Med Genet. 2019 May;56(5):340-346. doi: 10.1136/jmedgenet-2018-105421. Epub 2018 Oct 16.
J Med Genet. 2019.
PMID: 30327448
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The correlates of stigma toward mental illness among Jordanian patients with major depressive disorder.
Rayan A, Mahroum MH, Khasawneh A.
Rayan A, et al. Among authors: mahroum mh.
Perspect Psychiatr Care. 2018 Apr;54(2):192-197. doi: 10.1111/ppc.12222. Epub 2017 May 23.
Perspect Psychiatr Care. 2018.
PMID: 28543049
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Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA.
Shalata A, et al. Among authors: mahroum m.
Am J Hum Genet. 2013 Dec 5;93(6):1061-71. doi: 10.1016/j.ajhg.2013.10.025. Epub 2013 Nov 21.
Am J Hum Genet. 2013.
PMID: 24268657
Free PMC article.
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Homothorax plays autonomous and nonautonomous roles in proximodistal axis formation and migration of the Drosophila renal tubules.
Zohar-Stoopel A, Gonen N, Mahroum M, Ben-Zvi DS, Toledano H, Salzberg A.
Zohar-Stoopel A, et al. Among authors: mahroum m.
Dev Dyn. 2014 Jan;243(1):132-44. doi: 10.1002/dvdy.24011. Epub 2013 Jul 29.
Dev Dyn. 2014.
PMID: 23821438
Free article.
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