E-LIB Suche - Ergebnisse für: Veber, Alvit

1

Oculocutaneous albinism and bleeding diathesis due to a nov..:

Marek-Yagel, Dina ; Abudi-Sinreich, Shachar ; Macarov, Michal...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

2

Nonsense mutation in the novel PERCC1 gene as a genetic cau..:

Marek-Yagel, Dina ; Stenke, Emily ; Pode-Shakked, Ben...
Human Genetics. 142 (2022) 5 - p. 691-696 , 2022

Link: https://doi.org/10.1007/..

3

Deep intronic variant in the ARSB gene as the genetic cause..:

Marek‐Yagel, Dina ; Eliyahu, Aviva ; Veber, Alvit...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3804-3809 , 2021

Link: https://doi.org/10.1002/..

4

Four patients with D-bifunctional protein (DBP) deficiency:..:

Landau, Yuval E. ; Heimer, Gali ; Barel, Ortal...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100631 , 2020

Link: https://doi.org/10.1016/..

5

Progressive Pseudorheumatoid Dysplasia resolved by whole ex..:

Pode-Shakked, Ben ; Vivante, Asaf ; Barel, Ortal...
BMC Medical Genetics. 20 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

6

Cerebral and portal vein thrombosis, macrocephaly and atypi..:

Pode-Shakked, Ben ; Heimer, Gali ; Vilboux, Thierry...
Molecular Genetics and Metabolism. 128 (2019) 1-2 - p. 151-161 , 2019

Link: https://doi.org/10.1016/..

7

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atr..:

Heimer, Gali ; Kerätär, Juha M. ; Riley, Lisa G....
The American Journal of Human Genetics. 99 (2016) 6 - p. 1229-1244 , 2016

Link: https://doi.org/10.1016/..

8

Nonsense mutation in the novel PERCC1 gene as a genetic cau..:

Marek-Yagel, Dina ; Stenke, Emily ; Pode-Shakked, Ben...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182134/. , 2022

Link: http://www.ncbi.nlm.nih...

9

Oculocutaneous albinism and bleeding diathesis due to a nov..:

Marek-Yagel, Dina ; Abudi-Sinreich, Shachar ; Macarov, Michal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420964/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Four patients with D-bifunctional protein (DBP) deficiency:..:

Landau, Yuval E ; Heimer, Gali ; Barel, Ortal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451421/. , 2020

Link: http://www.ncbi.nlm.nih...

11

Cerebral and portal vein thrombosis, macrocephaly and atypi..:

Pode-Shakked, Ben ; Heimer, Gali ; Vilboux, Thierry...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10569059/. , 2019

Link: http://www.ncbi.nlm.nih...

12

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atr..:

Heimer, Gali ; Kerätär, Juha M ; Riley, Lisa G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142118/. , 2016

Link: http://www.ncbi.nlm.nih...

13

Table1_Oculocutaneous albinism and bleeding diathesis due t..:

Dina Marek-Yagel ; Shachar Abudi-Sinreich ; Michal Macarov...
doi:10.3389/fgene.2022.936064.s001. , 2022

Link: https://doi.org/10.3389/..

14

Oculocutaneous albinism and bleeding diathesis due to a nov..:

Dina Marek-Yagel ; Shachar Abudi-Sinreich ; Michal Macarov...
https://www.frontiersin.org/articles/10.3389/fgene.2022.936064/full. , 2022

Link: https://doi.org/10.3389/..

15

Four patients with D-bifunctional protein (DBP) deficiency:..:

Yuval E. Landau ; Gali Heimer ; Ortal Barel...
http://www.sciencedirect.com/science/article/pii/S221442692030077X. , 2020

Link: https://doi.org/10.1016/..