E-LIB Suche - Ergebnisse für: Fadaie, Zeinab

1

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to ..:

Vázquez-Domínguez, Irene ; Duijkers, Lonneke ; Fadaie, Zeinab...
Cells. 11 (2022) 22 - p. 3640 , 2022

2

Identification of a Complex Allele in IMPG2 as a Cause of A..:

Vázquez-Domínguez, Irene ; Li, Catherina H. Z. ; Fadaie, Zeinab...
Investigative Opthalmology & Visual Science. 63 (2022) 5 - p. 27 , 2022

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

3

The Impact of Modern Technologies on Molecular Diagnostic S..:

de Bruijn, Suzanne E. ; Fadaie, Zeinab ; Cremers, Frans P. M...
International Journal of Molecular Sciences. 22 (2021) 6 - p. 2943 , 2021

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

4

Whole genome sequencing and in vitro splice assays reveal g..:

Fadaie, Zeinab ; Whelan, Laura ; Ben-Yosef, Tamar...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

5

Long-read technologies identify a hidden inverted duplicati..:

Fadaie, Zeinab ; Neveling, Kornelia ; Mantere, Tuomo...
Human Genetics and Genomics Advances. 2 (2021) 4 - p. 100046 , 2021

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

6

Identification of splice defects due to noncanonical splice..:

Fadaie, Zeinab ; Khan, Mubeen ; Del Pozo‐Valero, Marta...
Human Mutation. 40 (2019) 12 - p. 2365-2376 , 2019

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

7

The identification of a RNA splice variant in TULP1 in two ..:

Verbakel, Sanne K. ; Fadaie, Zeinab ; Klevering, B. Jeroen...
Molecular Genetics & Genomic Medicine. 7 (2019) 6 - p. , 2019

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

8

Data placement using Dewey Encoding in a hierarchical data ..:

Rahmani, Amir Masoud ; Fadaie, Zeinab ; Chronopoulos, Anthony T.
Journal of Network and Computer Applications. 49 (2015) - p. 88-98 , 2015

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

9

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to ..:

Vázquez-Domínguez, Irene ; Duijkers, Lonneke ; Fadaie, Zeinab...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688607/. , 2022

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

10

Identification of a Complex Allele in IMPG2 as a Cause of A..:

Vázquez-Domínguez, Irene ; Li, Catherina H. Z ; Fadaie, Zeinab...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150824/. , 2022

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

11

Long-read technologies identify a hidden inverted duplicati..:

Fadaie, Zeinab ; Neveling, Kornelia ; Mantere, Tuomo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756506/. , 2021

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

12

Whole genome sequencing and in vitro splice assays reveal g..:

Fadaie, Zeinab ; Whelan, Laura ; Ben-Yosef, Tamar...
Fadaie , Z , Whelan , L , Ben-Yosef , T , Dockery , A , Corradi , Z , Gilissen , C , Haer-Wigman , L , Corominas , J , Astuti , G D N , de Rooij , L , van den Born , L I , Klaver , C C W , Hoyng , C B , Wynne , N , Duignan , E S , Kenna , P F , Cremers , F P M , Farrar , G J & Roosing , S 2021 , ' Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases ' , npj Genomic Medicine , vol. 6 , no. 1 , 97 . https://doi.org/10.1038/s41525-021-00261-1. , 2021

Link: https://pure.eur.nl/en/p..

13

The Impact of Modern Technologies on Molecular Diagnostic S..:

de Bruijn, Suzanne E ; Fadaie, Zeinab ; Cremers, Frans P. M..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998853/. , 2021

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

14

Identification of splice defects due to noncanonical splice..:

Fadaie, Zeinab ; Khan, Mubeen ; Del Pozo‐Valero, Marta...
qt4pv716bw. , 2019

Link: https://escholarship.org..

15

The identification of a RNA splice variant in TULP1 in two ..:

Verbakel, Sanne K ; Fadaie, Zeinab ; Klevering, B. Jeroen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565574/. , 2019

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