E-LIB Suche - Ergebnisse für: Zouk, Hana

1

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

Gold, Jessica I ; Madhavan, Sarina ; Park, Joseph...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10428110/. , 2023

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

2

Genetic Sex Validation for Sample Tracking in Clinical Test..:

Hu, Jianhong ; Korchina, Viktoriya ; Zouk, Hana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543510/. , 2023

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

3

Association of Pathogenic Variants in Hereditary Cancer Gen..:

Zeng, Chenjie ; Bastarache, Lisa A ; Tao, Ran...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026237/. , 2022

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

4

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

Zouk, Hana ; Yu, Wanfeng ; Oza, Andrea...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10128874/. , 2022

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

5

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

Dries, Annika M ; Kirillova, Anna ; Reuter, Chloe M...
https://research.rug.nl/en/publications/fb205329-9e34-4677-9e16-d5e035a700b3. , 2021

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

6

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

Dries, Annika M ; Kirillova, Anna ; Reuter, Chloe M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486651/. , 2021

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

7

The genetic architecture of Plakophilin 2 cardiomyopathy:

Dries, Annika M ; Kirillova, Anna ; Reuter, Chloe M...
https://research.rug.nl/en/publications/0bb7c910-71b8-445f-a437-0259b9e84807. , 2021

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

8

The genetic architecture of Plakophilin 2 cardiomyopathy:

Dries, Annika M ; Kirillova, Anna ; Reuter, Chloe M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486657/. , 2021

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

9

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

Azab, Bilal ; Dardas, Zain ; Aburizeg, Dunia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8074154/. , 2021

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

10

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

Blout Zawatsky, Carrie L ; Shah, Nidhi ; Machini, Kalotina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715145/. , 2021

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

11

The genetic architecture of Plakophilin 2 cardiomyopathy:

Dries, Annika M ; Kirillova, Anna ; Reuter, Chloe M...
info:eu-repo/semantics/altIdentifier/pmid/34120153. , 2021

Link: http://hdl.handle.net/11..

12

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

Murugan, Mullai ; Babb, Lawrence J ; Taylor, Casey Overby...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583906/. , 2021

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

13

Retrospective Analysis of Clinical Genetic Testing in Pedia..:

Quiat, Daniel ; Witkowski, Leora ; Zouk, Hana..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7428992/. , 2020

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

14

Variant Classification Concordance using the ACMG-AMP Varia..:

Amendola, Laura M ; Muenzen, Kathleen ; Biesecker, Leslie G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675005/. , 2020

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

15

An assessment of the role of loss of function Vinculin (VCL..:

Hawley, Megan H ; Almontashiri, Naif ; Biesecker, Leslie G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714388/. , 2020

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