Jabaly-Habib H - Search Results

1

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.

Zehavi Y, Saada A, Jabaly-Habib H, Dessau M, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Among authors: jabaly habib h. Metab Brain Dis. 2021 Apr;36(4):581-588. doi: 10.1007/s11011-021-00671-1. Epub 2021 Jan 20. Metab Brain Dis. 2021. PMID: 33471299 Review.

2

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.

3

Sixth Nerve Palsy in Children Etiology, Long-Term Course, and a Diagnostic Algorithm.

Hanna FA, Jabaly-Habib H, Halachmi-Eyal O, Hujierat M, Sakran W, Spiegel R. Hanna FA, et al. Among authors: jabaly habib h. J Child Neurol. 2022 Mar;37(4):281-287. doi: 10.1177/08830738211035912. Epub 2021 Dec 8. J Child Neurol. 2022. PMID: 34879720

4

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay.

Hexner-Erlichman Z, Fichtman B, Zehavi Y, Khayat M, Jabaly-Habib H, Izhaki-Tavor LS, Dessau M, Elpeleg O, Spiegel R. Hexner-Erlichman Z, et al. Among authors: jabaly habib h. Front Pediatr. 2022 May 17;10:859034. doi: 10.3389/fped.2022.859034. eCollection 2022. Front Pediatr. 2022. PMID: 35656379 Free PMC article.

5

[Leber's hereditary optic neuropathy].

Hilo W, Jabaly-Habib H, Modi N, Briscoe D. Hilo W, et al. Harefuah. 2013 Aug;152(8):486-9, 498, 497. Harefuah. 2013. PMID: 24167936 Review. Hebrew.

6

Heidenhain variant of Creutzfeldt-Jakob disease in a patient who had bovine bioprosthetic valve implantation.

Hashoul J, Saliba W, Bloch I, Jabaly-Habib H. Hashoul J, et al. Indian J Ophthalmol. 2016 Oct;64(10):767-769. doi: 10.4103/0301-4738.195003. Indian J Ophthalmol. 2016. PMID: 27905341 Free PMC article.

7

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T. Rizel L, et al. Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219650 Free PMC article.

8

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T. Cohen B, et al. Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1. Mol Vis. 2012. PMID: 23233793 Free PMC article.

9

Fornix triamcinolone injection for thyroid orbitopathy.

Hamed-Azzam S, Mukari A, Feldman I, Saliba W, Jabaly-Habib H, Briscoe D. Hamed-Azzam S, et al. Graefes Arch Clin Exp Ophthalmol. 2015 May;253(5):811-6. doi: 10.1007/s00417-015-2957-7. Epub 2015 Feb 12. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 25673253

10

[OCULAR MANIFESTATIONS IN SYSTEMIC DISEASES].

Amer R, Jabaly-Habib H. Amer R, et al. Among authors: jabaly habib h. Harefuah. 2022 Oct;161(10):599-602. Harefuah. 2022. PMID: 36315203 Hebrew.

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