Noa Ruhrman-Shahar
Overview
Explore the profile of Noa Ruhrman-Shahar including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
105
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Recent Articles
1.
Dori A, Chorin O, Ruhrman-Shahar N, Fellner A, Alon T, Reznik-Wolf H, et al.
Eur J Neurol
. 2025 Jan;
32(2):e70057.
PMID: 39878313
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial...
2.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Levy M, Lidzbarsky G, Batzir N, et al.
Genet Med Open
. 2024 Dec;
1(1):100813.
PMID: 39669250
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberately...
3.
Brabbing-Goldstein D, Bazak L, Ruhrman-Shahar N, Lidzbarsky G, Orenstein N, Lifshiz-Kalis M, et al.
Prenat Diagn
. 2024 Sep;
44(12):1423-1434.
PMID: 39237446
Objective: To investigate how many novel pathogenic (P) and likely pathogenic (LP) nonprotein-truncating or noncanonical splicing variants would be classified as variants of unknown significance (VUS) if they were detected...
4.
Revel-Vilk S, Mansfield R, Feder-Krengel N, Machtiger-Azoulay N, Kuter D, Szer J, et al.
J Clin Med
. 2023 Sep;
12(18).
PMID: 37762854
Taliglucerase alfa is an enzyme replacement therapy approved for Gaucher disease. We assessed the duration/compliance/safety of such home infusions in commercial use in four countries where home infusion programs are...
5.
Eliyahu A, Barel O, Greenbaum L, Hoffer G, Goldberg Y, Raas-Rothschild A, et al.
Front Pediatr
. 2022 Apr;
10:844845.
PMID: 35433545
The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants in were implicated in individuals with intellectual disability (ID)...
6.
Sukenik-Halevy R, Perlman S, Ruhrman-Shahar N, Engel O, Orenstein N, Gonzaga-Jauregui C, et al.
Prenat Diagn
. 2022 Jan;
42(6):717-724.
PMID: 35032046
Objective: Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among...
7.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, et al.
Eur J Neurol
. 2021 Dec;
29(4):1174-1180.
PMID: 34935254
Background And Purpose: Muscular A-type lamin-interacting protein (MLIP) is most abundantly expressed in cardiac and skeletal muscle. In vitro and animal studies have shown its regulatory role in myoblast differentiation...
8.
Orenstein N, Gofin Y, Shomron N, Ruhrman-Shahar N, Magal N, Hagari O, et al.
Clin Genet
. 2021 Nov;
101(2):265-266.
PMID: 34786696
A family with DYRK1B LOF variant offering to expand the phenotype beyond the metabolic syndrome.
9.
Ruhrman-Shahar N, Cohen I
J Pediatr Hematol Oncol
. 2021 Oct;
44(1):28.
PMID: 34699463
No abstract available.
10.
Ruhrman-Shahar N, Assia Batzir N, Lidzbarsky G, Bazak L, Magal N, Basel-Salmon L
Am J Med Genet A
. 2021 Sep;
188(1):369-372.
PMID: 34559457
No abstract available.