E-LIB Suche - Ergebnisse für: Corominas Galbany, Jordi

1

Genome sequencing as a generic diagnostic strategy for rare..:

Schobers, Gaby ; Derks, Ronny ; den Ouden, Amber...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

2

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
Human Genomics. 17 (2023) 1 - p. , 2023

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

3

The performance of genome sequencing as a first-tier test f..:

van der Sanden, Bart P. G. H. ; Schobers, Gaby ; Corominas Galbany, Jordi...
European Journal of Human Genetics. 31 (2022) 1 - p. 81-88 , 2022

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

4

Common and rare variants in patients with early onset druse..:

de Breuk, Anita ; Lechanteur, Yara T. E. ; Astuti, Galuh...
Clinical Genetics. 102 (2022) 5 - p. 414-423 , 2022

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

5

Reanalysis of exome negative patients with rare disease: a ..:

Schobers, Gaby ; Schieving, Jolanda H. ; Yntema, Helger G....
Genome Medicine. 14 (2022) 1 - p. , 2022

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

6

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cy..:

Reurink, Janine ; de Vrieze, Erik ; Li, Catherina H. Z....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

7

Correction: Mobile element insertions in rare diseases: a c..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

8

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

9

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

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918427/. , 2023

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

10

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

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
https://research.rug.nl/en/publications/33968473-8cf1-49e9-85da-4089312f325a. , 2023

Link: https://hdl.handle.net/1..

11

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/. , 2023

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

12

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5. , 2023

Link: http://orbilu.uni.lu/han..

13

The performance of genome sequencing as a first-tier test f..:

van der Sanden, Bart P. G. H ; Schobers, Gaby ; Corominas Galbany, Jordi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822884/. , 2022

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

14

Presence of Genetic Variants Among Young Men With Severe CO..:

van der Made, Caspar I ; Simons, Annet ; Schuurs-Hoeijmakers, Janneke...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382021/. , 2020

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

15

Presence of Genetic Variants Among Young Men With Severe CO..:

van der Made, Caspar I ; Simons, Annet ; Schuurs-Hoeijmakers, Janneke...
van der Made , C I , Simons , A , Schuurs-Hoeijmakers , J , van den Heuvel , G , Mantere , T , Kersten , S , van Deuren , R C , Steehouwer , M , van Reijmersdal , S V , Jaeger , M , Hofste , T , Astuti , G , Corominas Galbany , J , van der Schoot , V , van der Hoeven , H , Hagmolen Of ten Have , W , Klijn , E , van den Meer , C , Fiddelaers , J , de Mast , Q , Bleeker-Rovers , C P , Joosten , L A B , Yntema , H G , Gilissen , C , Nelen , M , van der Meer , J W M , Brunner , H G , Netea , M G , van de Veerdonk , F L & Hoischen , A 2020 , ' Presence of Genetic Variants Among Young Men With Severe COVID-19 ' , JAMA-Journal of the American Medical Association , vol. 324 , no. 7 , pp. 663-673 . https://doi.org/10.1001/jama.2020.13719. , 2020

Link: https://cris.maastrichtu..