E-LIB Suche - Ergebnisse für: Zouk, Hana

1

P064: Returning genomic risk for hereditary breast and ovar..:

Abbasi, Ilham ; Perez, Emma ; Zouk, Hana...
Genetics in Medicine Open. 2 (2024) - p. 100946 , 2024

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

2

P017: Phenotypes of adults with MPS1 pseudodeficiency varia..:

O'Grady, Lauren ; Gold, Nina ; Karaa, Amel...
Genetics in Medicine Open. 2 (2024) - p. 100894 , 2024

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

3

Genetic sex validation for sample tracking in next-generati..:

Hu, Jianhong ; Korchina, Viktoriya ; Zouk, Hana...
BMC Research Notes. 17 (2024) 1 - p. , 2024

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

4

P677: Evolving from case counts to case-controls data: Upda..:

Kelly, Melissa ; Zouk, Hana ; Ware, James..
Genetics in Medicine Open. 2 (2024) - p. 101581 , 2024

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

5

P517: An automated approach to report drafting for newborn ..:

Nagy, Anna ; Mysen, Eugene ; Sun, Chungming Glendy...
Genetics in Medicine Open. 1 (2023) 1 - p. 100564 , 2023

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

6

Phenotypes of undiagnosed adults with actionable OTC and GL..:

Gold, Jessica I. ; Madhavan, Sarina ; Park, Joseph...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100226 , 2023

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

7

Reanalysis of eMERGE phase III sequence variants in 10,500 ..:

Zouk, Hana ; Yu, Wanfeng ; Oza, Andrea...
Genetics in Medicine. 24 (2022) 2 - p. 454-462 , 2022

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

8

Genomic considerations for FHIR®; eMERGE implementation les..:

Murugan, Mullai ; Babb, Lawrence J. ; Overby Taylor, Casey...
Journal of Biomedical Informatics. 118 (2021) - p. 103795 , 2021

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

9

The genetic architecture of Plakophilin 2 cardiomyopathy:

Dries, Annika M. ; Kirillova, Anna ; Reuter, Chloe M....
Genetics in Medicine. 23 (2021) 10 - p. 1961-1968 , 2021

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

10

Returning actionable genomic results in a research biobank:..:

Blout Zawatsky, Carrie L. ; Shah, Nidhi ; Machini, Kalotina...
The American Journal of Human Genetics. 108 (2021) 12 - p. 2224-2237 , 2021

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

11

Correction to: The genetic architecture of Plakophilin 2 ca..:

Dries, Annika M. ; Kirillova, Anna ; Reuter, Chloe M....
Genetics in Medicine. 23 (2021) 10 - p. 2014 , 2021

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

12

Unique Variant Spectrum in a Jordanian Cohort with Inherite..:

Azab, Bilal ; Dardas, Zain ; Aburizeg, Dunia...
Genes. 12 (2021) 4 - p. 593 , 2021

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

13

Retrospective Analysis of Clinical Genetic Testing in Pedia..:

Quiat, Daniel ; Witkowski, Leora ; Zouk, Hana..
Journal of the American Heart Association. 9 (2020) 11 - p. , 2020

Link: https://doi.org/10.1161/..

14

Frequency of genomic secondary findings among 21,915 eMERGE..:

Gordon, Adam S. ; Zouk, Hana ; Venner, Eric...
Genetics in Medicine. 22 (2020) 9 - p. 1470-1477 , 2020

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

15

An assessment of the role of vinculin loss of function vari..:

Hawley, Megan H. ; Almontashiri, Naif ; Biesecker, Leslie G....
Human Mutation. 41 (2020) 9 - p. 1577-1587 , 2020

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