E-LIB Suche - Ergebnisse für: Ben-Yosef, Tamar

1

Loss-of-function variants in UBAP1L cause autosomal recessi..:

Han, Ji Hoon ; Rodenburg, Kim ; Hayman, Tamar...
Genetics in Medicine. 26 (2024) 6 - p. 101106 , 2024

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

2

Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocul..:

Deitch, Iris ; Itskov, Sofia ; Panneman, Daan...
Current Issues in Molecular Biology. 46 (2024) 3 - p. 2566-2575 , 2024

Link: https://doi.org/10.3390/..

3

Simultaneous Detection of Common Founder Mutations Using a ..:

Shalom, Sapir ; Hanany, Mor ; Eilat, Avital...
Genes. 15 (2024) 5 - p. 646 , 2024

Link: https://doi.org/10.3390/..

4

Towards Uncovering the Role of Incomplete Penetrance in Mac..:

Hitti-Malin, Rebekkah J. ; Panneman, Daan M. ; Corradi, Zelia...
Biomolecules. 14 (2024) 3 - p. 367 , 2024

Link: https://doi.org/10.3390/..

5

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant R..:

Sundaresan, Yogapriya ; Rivera, Antonio ; Obolensky, Alexey...
Genes. 15 (2024) 6 - p. 804 , 2024

Link: https://doi.org/10.3390/..

6

Mutations in SAMD7 cause autosomal-recessive macular dystro..:

Bauwens, Miriam ; Celik, Elifnaz ; Zur, Dinah...
The American Journal of Human Genetics. 111 (2024) 2 - p. 393-402 , 2024

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

7

Best Disease: Global Mutations Review, Genotype–Phenotype C..:

Beryozkin, Avigail ; Sher, Ifat ; Ehrenberg, Miriam...
Investigative Opthalmology & Visual Science. 65 (2024) 2 - p. 39 , 2024

Link: https://doi.org/10.1167/..

8

Genotype and Phenotype Characteristics of Major Genes Causi..:

, In: Essentials in Ophthalmology; Advances in Vision Research, Volume IV,

Ehrenberg, Miriam ; Zur, Dinah ; Ben-Yosef, Tamar. - p. 45-60 , 2024

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

9

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clin..:

Shalata, Adel ; Bar-Shai, Marina ; Hadid, Yarin...
Genes. 14 (2023) 8 - p. 1539 , 2023

Link: https://doi.org/10.3390/..

10

Optical genome mapping and revisiting short-read genome seq..:

de Bruijn, Suzanne E. ; Rodenburg, Kim ; Corominas, Jordi...
Genetics in Medicine. 25 (2023) 3 - p. 100345 , 2023

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

11

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

12

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100181 , 2023

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

13

Inherited Retinal Diseases:

Ben-Yosef, Tamar
International Journal of Molecular Sciences. 23 (2022) 21 - p. 13467 , 2022

Link: https://doi.org/10.3390/..

14

Retinal Degeneration Associated With RPGRIP1: A Review of N..:

Beryozkin, Avigail ; Aweidah, Hamzah ; Carrero Valenzuela, Roque Daniel...
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

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

15

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, Riccardo ; Deitch, Iris ; Peter, Virginie G....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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