Ruhrman-Shahar N[au] - Search Results

Year	Number of Results
2016	1
2017	1
2018	2
2019	4
2020	4
2021	7
2022	6
2023	1
2024	0

1

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Eliyahu A, Barel O, Greenbaum L, Zaks Hoffer G, Goldberg Y, Raas-Rothschild A, Singer A, Bar-Joseph I, Kunik V, Javasky E, Staretz-Chacham O, Pode-Shakked N, Bazak L, Ruhrman-Shahar N, Pras E, Frydman M, Shohat M, Pode-Shakked B. Eliyahu A, et al. Among authors: ruhrman shahar n. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.

2

The Ongoing Debate regarding Long-Term Safety of Silicone Breast Augmentation Rages.

Levy Y, Ruhrman-Shahar N. Levy Y, et al. Among authors: ruhrman shahar n. Isr Med Assoc J. 2016 Dec;18(12):754-755. Isr Med Assoc J. 2016. PMID: 28457080 Free article. No abstract available.

3

Autoimmune reaction after anti-tetanus vaccination-description of four cases and review of the literature.

Ruhrman-Shahar N, Torres-Ruiz J, Rotman-Pikielny P, Levy Y. Ruhrman-Shahar N, et al. Immunol Res. 2017 Feb;65(1):157-163. doi: 10.1007/s12026-016-8822-x. Immunol Res. 2017. PMID: 27435706 Review.

4

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

Orenstein N, Gofin Y, Shomron N, Ruhrman-Shahar N, Magal N, Hagari O, Azulay N, Bazak L, Goldberg Y, Basel-Salmon L. Orenstein N, et al. Among authors: ruhrman shahar n. Clin Genet. 2022 Feb;101(2):265-266. doi: 10.1111/cge.14084. Epub 2021 Nov 16. Clin Genet. 2022. PMID: 34786696

5

Challenging the Use of Hematopoietic Stem Cell Transplantation in Gaucher Disease.

Ruhrman-Shahar N, Cohen IJ. Ruhrman-Shahar N, et al. J Pediatr Hematol Oncol. 2022 Jan 1;44(1):28. doi: 10.1097/MPH.0000000000002359. J Pediatr Hematol Oncol. 2022. PMID: 34699463 No abstract available.

6

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

Ruhrman-Shahar N, Assia Batzir N, Lidzbarsky GA, Bazak L, Magal N, Basel-Salmon L. Ruhrman-Shahar N, et al. Am J Med Genet A. 2022 Jan;188(1):369-372. doi: 10.1002/ajmg.a.62519. Epub 2021 Sep 24. Am J Med Genet A. 2022. PMID: 34559457 No abstract available.

7

Experts' views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease.

Hamiel U, Kurolap A, Cohen IJ, Ruhrman-Shahar N, Hershkovitz T, Niederau C, Zimran A, Revel-Vilk S, Istaiti M, Cappellini MD, Baris Feldman H. Hamiel U, et al. Among authors: ruhrman shahar n. Br J Haematol. 2021 Oct;195(2):e135-e137. doi: 10.1111/bjh.17693. Epub 2021 Jul 5. Br J Haematol. 2021. PMID: 34227097 Free PMC article. No abstract available.

8

Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.

Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, Staples J, Magal N, Shuldiner AR, Mitchell BD, Nevo Y, Pollin TI, Gonzaga-Jauregui C, Basel-Salmon L. Salzer-Sheelo L, et al. Among authors: ruhrman shahar n. Eur J Neurol. 2022 Apr;29(4):1174-1180. doi: 10.1111/ene.15218. Epub 2022 Jan 7. Eur J Neurol. 2022. PMID: 34935254

9

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.

Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y. Toledano H, et al. Among authors: ruhrman shahar n. J Med Genet. 2020 Jul;57(7):505-508. doi: 10.1136/jmedgenet-2019-106303. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501241

10

Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study.

Revel-Vilk S, Mansfield R, Feder-Krengel N, Machtiger-Azoulay N, Kuter D, Szer J, Rosenbaum H, Ferreira DC, Ruhrman-Shahar N, Wajnrajch M, Zimran A. Revel-Vilk S, et al. Among authors: ruhrman shahar n. J Clin Med. 2023 Sep 12;12(18):5913. doi: 10.3390/jcm12185913. J Clin Med. 2023. PMID: 37762854 Free PMC article.

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