Salah S - Search Results

1

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: salah s. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396

2

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T. Sheffer R, et al. Among authors: salah s. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976113 Free PMC article.

3

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S. Fichtman B, et al. Among authors: salah s. Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178128 Free PMC article.

4

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Mor-Shaked H, Salah S, Yanovsky-Dagan S, Meiner V, Atawneh OM, Abu-Libdeh B, Elpeleg O, Harel T. Mor-Shaked H, et al. Among authors: salah s. Clin Genet. 2021 Apr;99(4):577-582. doi: 10.1111/cge.13920. Epub 2021 Jan 13. Clin Genet. 2021. PMID: 33410501

5

Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.

Salah S, Jaber H, Frumkin A, Harel T. Salah S, et al. Am J Med Genet A. 2023 Oct;191(10):2623-2630. doi: 10.1002/ajmg.a.63326. Epub 2023 Jun 27. Am J Med Genet A. 2023. PMID: 37365930

6

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.

Aguila A, Salah S, Kulasekaran G, Shweiki M, Shaul-Lotan N, Mor-Shaked H, Daana M, Harel T, McPherson PS. Aguila A, et al. Among authors: salah s. J Biol Chem. 2024 Apr;300(4):107124. doi: 10.1016/j.jbc.2024.107124. Epub 2024 Mar 1. J Biol Chem. 2024. PMID: 38432637 Free PMC article.

7

Biallelic variants in PAX3 cause Klein syndrome.

Salah S, Meiner V, Abumayaleh A, Asafra A, Al-Sharif T, Al-Fallah O, Hasasneh B, Zlotogora J. Salah S, et al. Clin Genet. 2022 Sep;102(3):223-227. doi: 10.1111/cge.14167. Epub 2022 Jun 5. Clin Genet. 2022. PMID: 35607853

8

Peculiar Pattern of Response Following [225Ac]Ac-PSMA Therapy: A Case Report with 'PSA Pseudoregression' Response Pattern.

Al-Ibraheem A, Istatieh F, Abdlkadir AS, Abufara A, Sharaf B, Abu-Hijlih R, Al-Hajaj N, Salah S. Al-Ibraheem A, et al. Among authors: salah s. Nuklearmedizin. 2024 May 17. doi: 10.1055/a-2311-5679. Online ahead of print. Nuklearmedizin. 2024. PMID: 38760000 English. No abstract available.

9

Retinal Pigment Epithelial Adenoma: Initial Treatment Outcomes following Episcleral Brachytherapy.

Fayed AE, Swaify IY, Khattab AM, Macky TA, Hassanein DH, Salah SH, Abdullatif AM, Noureldine AM, Fadel MR, Helmy YAH, Elnahry AG, Meqdad YA, Yesiltas YS, Singh AD, Hamza H. Fayed AE, et al. Among authors: salah sh. Ocul Oncol Pathol. 2024 Apr;10(1):9-14. doi: 10.1159/000536127. Epub 2024 Jan 16. Ocul Oncol Pathol. 2024. PMID: 38751496 Free PMC article.

10

Pancreatic surgery outcomes: multicentre prospective snapshot study in 67 countries.

PancreasGroup.org Collaborative. PancreasGroup.org Collaborative. Br J Surg. 2024 Jan 3;111(1):znad330. doi: 10.1093/bjs/znad330. Br J Surg. 2024. PMID: 38743040 Free PMC article.

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