E-LIB Suche - Ergebnisse für: Marek-Yagel, Dina

1

PANGEN: an online platform for the comparison and creation ..:

Isakov, Ofer ; Marek-Yagel, Dina ; Greenberg, Rotem..
Database. 2024 (2024) - p. , 2024

Link: https://doi.org/10.1093/..

2

A multidisciplinary nephrogenetic referral clinic for child..:

Pode-Shakked, Ben ; Ben-Moshe, Yishay ; Barel, Ortal...
Pediatric Nephrology. 37 (2022) 7 - p. 1623-1646 , 2022

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

3

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/..

4

Glycogen Storage Disease type IA refractory to cornstarch: ..:

Steg Saban, Or ; Pode-Shakked, Ben ; Abu-Libdeh, Bassam...
European Journal of Medical Genetics. 65 (2022) 6 - p. 104518 , 2022

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

5

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/..

6

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/..

7

A single center experience with publicly funded clinical ex..:

Pode-Shakked, Ben ; Barel, Ortal ; Singer, Amihood...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

8

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/..

9

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/..

10

Noncoding deletions reveal a gene that is critical for inte..:

Oz-Levi, Danit ; Olender, Tsviya ; Bar-Joseph, Ifat...
Nature. 571 (2019) 7763 - p. 107-111 , 2019

Link: https://doi.org/10.1038/..

11

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/..

12

Genetic and Structural Analysis of a SKIV2L Mutation Causin..:

Vardi, Iddo ; Barel, Ortal ; Sperber, Michal...
Digestive Diseases and Sciences. 63 (2018) 5 - p. 1192-1199 , 2018

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

13

Deleterious variants in TRAK1 disrupt mitochondrial movemen..:

Barel, Ortal ; Malicdan, May Christine V ; Ben-Zeev, Bruria...
Brain. 140 (2017) 3 - p. 568-581 , 2017

Link: https://doi.org/10.1093/..

14

Congenital protein losing enteropathy: an inborn error of l..:

Stephen, Joshi ; Vilboux, Thierry ; Haberman, Yael...
European Journal of Human Genetics. 24 (2016) 9 - p. 1268-1273 , 2016

Link: https://doi.org/10.1038/..

15

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/..