E-LIB Suche - Ergebnisse für: Ruhrman-Shahar, Noa

1

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/..

2

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/..

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

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/..

7

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/..

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

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/..

13

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/..

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/..