I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
Ruhrman-Shahar, Noa
26
results:
Search for persons
X
Format
Online (26)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (9)
Sorted by: Relevance
Sorted by: Year
?
1
Clinically actionable incidental and secondary parental gen..:
Basel-Salmon, Lina
;
Ruhrman-Shahar, Noa
;
Orenstein, Naama
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100813 , 2023
Link:
https://doi.org/10.1016/..
?
2
Real-World Experiences with Taliglucerase Alfa Home Infusio..:
Revel-Vilk, Shoshana
;
Mansfield, Royston
;
Feder-Krengel, Neta
...
Journal of Clinical Medicine. 12 (2023) 18 - p. 5913 , 2023
Link:
https://doi.org/10.3390/..
?
3
Eliglustat in patients with Gaucher disease previously trea..:
Istaiti, Majdolen
;
Ruhrman-Shahar, Noa
;
Cohen, Ian J.
...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S61 , 2022
Link:
https://doi.org/10.1016/..
?
4
Refining the Phenotypic Spectrum of KMT5B-Associated Develo..:
Eliyahu, Aviva
;
Barel, Ortal
;
Greenbaum, Lior
...
Frontiers in Pediatrics. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
5
Biallelic variants in ETV2 in a family with congenital hear..:
Basel-Salmon, Lina
;
Ruhrman-Shahar, Noa
;
Barel, Ortal
...
European Journal of Medical Genetics. 64 (2021) 2 - p. 104124 , 2021
Link:
https://doi.org/10.1016/..
?
6
The role of phenotype-based search approaches using public ..:
Fellner, Avi
;
Ruhrman-Shahar, Noa
;
Orenstein, Naama
...
Genetics in Medicine. 23 (2021) 6 - p. 1095-1100 , 2021
Link:
https://doi.org/10.1038/..
?
7
When phenotype does not match genotype: importance of "real..:
Basel-Salmon, Lina
;
Ruhrman-Shahar, Noa
;
Orenstein, Naama
...
Genetics in Medicine. 23 (2021) 1 - p. 215-221 , 2021
Link:
https://doi.org/10.1038/..
?
8
Improved diagnostics by exome sequencing following raw data..:
Basel-Salmon, Lina
;
Orenstein, Naama
;
Markus-Bustani, Keren
...
Genetics in Medicine. 21 (2019) 6 - p. 1443-1451 , 2019
Link:
https://doi.org/10.1038/..
?
9
Real-World Experiences with Taliglucerase Alfa Home Infusio..:
Revel-Vilk, Shoshana
;
Mansfield, Royston
;
Feder-Krengel, Neta
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531841/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
Refining the Phenotypic Spectrum of KMT5B-Associated Develo..:
Eliyahu, Aviva
;
Barel, Ortal
;
Greenbaum, Lior
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005902/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
11
Spectrum of genes for inherited hearing loss in the Israeli..:
Brownstein, Zippora
;
Gulsuner, Suleyman
;
Walsh, Tom
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045518/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
12
High frequency of MEFV disease-causing variants in children..:
Abu Shtaya, Aasem
;
Orenstein, Naama
;
Bazak, Lily
...
Pediatric Research. , 2024
Link:
https://doi.org/10.1038/..
?
13
Real-world experiences with taliglucerase alfa home infusio..:
Zimran, Ari
;
Mansfield, Roy
;
Feder-Krengel, Neta
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108093 , 2024
Link:
https://doi.org/10.1016/..
?
14
Clustered variants in the 5′ coding region of TRA2B cause a..:
Ramond, Francis
;
Dalgliesh, Caroline
;
Grimmel, Mona
...
Genetics in Medicine. 25 (2023) 4 - p. 100003 , 2023
Link:
https://doi.org/10.1016/..
?
15
Clinically actionable incidental and secondary parental gen..:
Lina Basel-Salmon
;
Noa Ruhrman-Shahar
;
Naama Orenstein
...
http://www.sciencedirect.com/science/article/pii/S2949774423008221. , 2023
Link:
https://doi.org/10.1016/..
1-15