E-LIB Suche - Ergebnisse für: Tamar Harel

1

Genetics of bilateral pediatric cataract in the Israeli and..:

Yahalom, Claudia ; Anteby, Irene ; Hendler, Karen...
Graefe's Archive for Clinical and Experimental Ophthalmology. , 2024

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

2

De novo variants in ATXN7L3 lead to developmental delay, hy..:

Harel, Tamar ; Spicher, Camille ; Scheer, Elisabeth...
Brain. 147 (2024) 8 - p. 2732-2744 , 2024

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

3

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine. 26 (2024) 4 - p. 101068 , 2024

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

4

Low prevalence of SCA27B in adult-onset cerebellar ataxia c..:

Halstuk, Orli ; Dayan, Roy ; Silverstein, Shira...
Parkinsonism & Related Disorders. 126 (2024) - p. 107067 , 2024

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

5

A neurodevelopmental disorder associated with a loss-of-fun..:

Aguila, Adriana ; Salah, Somaya ; Kulasekaran, Gopinath...
Journal of Biological Chemistry. 300 (2024) 4 - p. 107124 , 2024

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

6

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance. 7 (2024) 3 - p. e202302258 , 2024

Link: https://doi.org/10.26508..

7

Exploring the factors affecting classification and reportin..:

Michaelson‐Cohen, Rachel ; Salzer, Liat Sheelo ; Brabbing‐Goldstein, Dana...
Prenatal Diagnosis. 44 (2024) 4 - p. 511-518 , 2024

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

8

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

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

9

A recurrent de novo variant in NUSAP1 escapes nonsense‐medi..:

Mo, Alisa ; Paz‐Ebstein, Emuna ; Yanovsky‐Dagan, Shira...
Clinical Genetics. 104 (2023) 1 - p. 73-80 , 2023

Link: https://doi.org/10.1111/..

10

Rare disease informs mechanism and possible treatment of st..:

Harel, Tamar
Proceedings of the National Academy of Sciences. 120 (2023) 10 - p. , 2023

Link: https://doi.org/10.1073/..

11

New onset or relapsing neuromyelitis optica temporally asso..:

Harel, Tamar ; Gorman, Emily F. ; Wallin, Mitchell T.
Frontiers in Neurology. 14 (2023) - p. , 2023

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

12

Explanations for the discrepancy between variant frequency ..:

Zlotogora, Joël ; Harel, Tamar ; Meiner, Vardiella
European Journal of Medical Genetics. 66 (2023) 6 - p. 104765 , 2023

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

13

Homozygous 22q11.2 distal type II microdeletion is associat..:

Salah, Somaya ; Jaber, Hiba ; Frumkin, Ayala.
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2623-2630 , 2023

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

14

Discovery of a new hereditary RECQ helicase disorder RECON ..:

Datta, Arindam ; Sommers, Joshua A. ; Jhujh, Satpal S....
Ageing Research Reviews. 86 (2023) - p. 101887 , 2023

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

15

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry. 299 (2023) 8 - p. 105012 , 2023

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