E-LIB Suche - Ergebnisse für: Eriskay Liston

1

Genetics providers' perspectives on the use of digital tool..:

Lee, Whiwon ; Hirjikaka, Daena ; Grewal, Sonya...
Genetics in Medicine. 26 (2024) 6 - p. 101122 , 2024

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

2

Finding the sweet spot: a qualitative study exploring patie..:

Luca, Stephanie ; Clausen, Marc ; Shaw, Angela...
Human Genetics. 142 (2023) 3 - p. 321-330 , 2023

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

3

SCIP: software for efficient clinical interpretation of cop..:

Ding, Qiliang ; Somerville, Cherith ; Manshaei, Roozbeh...
Human Genetics. 142 (2022) 2 - p. 201-216 , 2022

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

4

Trio genome sequencing for developmental delay and pediatri..:

Jegathisawaran, Jathishinie ; Tsiplova, Kate ; Hayeems, Robin Z....
Genetics in Medicine. 24 (2022) 5 - p. 1027-1036 , 2022

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

5

The Clinician-reported Genetic testing Utility InDEx (C-GUI..:

Hayeems, Robin Z. ; Luca, Stephanie ; Ungar, Wendy J....
Genetics in Medicine. 24 (2022) 2 - p. 430-438 , 2022

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

6

A Model for the Integration of Genome Sequencing Into a Ped..:

Liston, Eriskay J. ; Kalbfleisch, Kelsey J. ; Stanley, Kaitlin J....
Canadian Journal of Cardiology. 38 (2022) 9 - p. 1454-1457 , 2022

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

7

Genes and Pathways Implicated in Tetralogy of Fallot Reveal..:

Manshaei, Roozbeh ; Merico, Daniele ; Reuter, Miriam S....
Frontiers in Genetics. 11 (2020) - p. , 2020

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

8

The Cardiac Genome Clinic: implementing genome sequencing i..:

Reuter, Miriam S. ; Chaturvedi, Rajiv R. ; Liston, Eriskay...
Genetics in Medicine. 22 (2020) 6 - p. 1015-1024 , 2020

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

9

A novel intronic variant inUBE3Aidentified by genome sequen..:

Curtis, Meredith ; Baribeau, Danielle ; Walker, Susan...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2145-2151 , 2020

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

10

Haploinsufficiency of vascular endothelial growth factor re..:

Reuter, Miriam S. ; Jobling, Rebekah ; Chaturvedi, Rajiv R....
Genetics in Medicine. 21 (2019) 4 - p. 1001-1007 , 2019

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

11

Return of genetic and genomic research findings: experience..:

Papaz, Tanya ; Liston, Eriskay ; Zahavich, Laura...
BMC Medical Genomics. 12 (2019) 1 - p. , 2019

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

12

Recommendations for the integration of genomics into clinic..:

Bowdin, Sarah ; Gilbert, Adel ; Bedoukian, Emma...
Genetics in Medicine. 18 (2016) 11 - p. 1075-1084 , 2016

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

13

Genes and Pathways Implicated in Tetralogy of Fallot Reveal..:

Roozbeh Manshaei ; Daniele Merico ; Miriam S. Reuter...
https://www.frontiersin.org/article/10.3389/fgene.2020.00957/full. , 2020

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

14

Return of genetic and genomic research findings: experience..:

Tanya Papaz ; Eriskay Liston ; Laura Zahavich...
http://link.springer.com/article/10.1186/s12920-019-0618-0. , 2019

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

15

SCIP: software for efficient clinical interpretation of cop..:

Ding, Qiliang ; Somerville, Cherith ; Manshaei, Roozbeh...
https://doi.org/10.1007/s00439-022-02494-1. , 2022

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