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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14.
Hum Mutat. 2022.
PMID: 35332618
Review.
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
Zobor D, Balousha G, Baumann B, Wissinger B.
Zobor D, et al. Among authors: balousha g.
Mol Vis. 2014 Feb 7;20:178-82. eCollection 2014.
Mol Vis. 2014.
PMID: 24520187
Free PMC article.
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Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Schöls L, Bauer P, Wissinger B.
Mayer AK, et al. Among authors: balousha g.
Eur J Hum Genet. 2020 Jun;28(6):742-753. doi: 10.1038/s41431-019-0566-3. Epub 2020 Jan 2.
Eur J Hum Genet. 2020.
PMID: 31896775
Free PMC article.
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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L.
Hengel H, et al. Among authors: balousha g.
Eur J Hum Genet. 2020 Aug;28(8):1034-1043. doi: 10.1038/s41431-020-0609-9. Epub 2020 Mar 25.
Eur J Hum Genet. 2020.
PMID: 32214227
Free PMC article.
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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L.
Hengel H, et al. Among authors: balousha g.
Eur J Hum Genet. 2022 Feb;30(2):248. doi: 10.1038/s41431-021-00909-7.
Eur J Hum Genet. 2022.
PMID: 34050322
Free PMC article.
No abstract available.
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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium; Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L.
Hengel H, et al. Among authors: balousha g.
Am J Hum Genet. 2021 Jun 3;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21.
Am J Hum Genet. 2021.
PMID: 34022130
Free PMC article.
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BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.
Wong WK, Troedson C, Damme M, Goetti R, Temple SEL, Schöls L, Balousha G, Prelog K, Buckley M, Roscioli T, Hengel H, Mohammad SS.
Wong WK, et al. Among authors: balousha g.
Mov Disord. 2022 Apr;37(4):870-872. doi: 10.1002/mds.28915. Epub 2022 Jan 4.
Mov Disord. 2022.
PMID: 34981858
No abstract available.
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Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB.
Deschauer M, et al. Among authors: balousha g.
Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418.
Brain. 2021.
PMID: 33459760
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