E-LIB Suche - Ergebnisse für: Powis, Zöe

1

P650: Myotonic dystrophy type 1 genetic testing in over 30,..:

Powis, Zoe ; Liaquat, Khalida ; Meservey, Marc..
Genetics in Medicine Open. 2 (2024) - p. 101555 , 2024

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

2

P531: The utility of exome sequencing for neurodevelopmenta..:

Owens, Kailey ; Lutz, Jonathon ; Powis, Zoe
Genetics in Medicine Open. 1 (2023) 1 - p. 100578 , 2023

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

3

P271: Beyond SMN1: Review of genotype-phenotype correlation..:

Powis, Zoe ; Nashawaty, Meagan ; Paal, Andrea.
Genetics in Medicine Open. 1 (2023) 1 - p. 100299 , 2023

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

4

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: ..:

Guerrini, Renzo ; Mei, Davide ; Kerti-Szigeti, Katalin...
Brain. 145 (2022) 8 - p. 2687-2703 , 2022

Link: https://doi.org/10.1093/..

5

eP387: Genetic testing for spinocerebellar ataxias in pedia..:

Powis, Zoe ; Meservey, Marc ; Liaquat, Khalida..
Genetics in Medicine. 24 (2022) 3 - p. S244-S245 , 2022

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

6

Expanding the mutational spectrum for branchiooculofacial s..:

Powis, Zoe ; Hayes, Hannah ; Hamm, J. Austin..
Molecular Genetics and Metabolism. 132 (2021) - p. S269 , 2021

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

7

Retrospective review of genetic testing for inherited bone ..:

Jacher, Joe ; Scocchia, Alicia ; Kokkonen, Päivi...
Molecular Genetics and Metabolism. 132 (2021) - p. S233-S234 , 2021

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

8

ATP1A2- and ATP1A3-associated early profound epileptic ence..:

Vetro, Annalisa ; Nielsen, Hang N ; Holm, Rikke...
Brain. 144 (2021) 5 - p. 1435-1450 , 2021

Link: https://doi.org/10.1093/..

9

Histone H3.3 beyond cancer: Germline mutations inHistone 3 ..:

Bryant, Laura ; Li, Dong ; Cox, Samuel G....
Science Advances. 6 (2020) 49 - p. , 2020

Link: https://doi.org/10.1126/..

10

Estimating the relative frequency of leukodystrophies and r..:

Schmidt, Johanna L. ; Pizzino, Amy ; Nicholl, Jessica...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1906-1912 , 2020

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

11

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, Richard J. ; Young, Rodrigo M. ; Crespo, Berta...
The American Journal of Human Genetics. 105 (2019) 3 - p. 640-657 , 2019

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

12

Clinical diagnostic exome sequencing in dystonia: Genetic t..:

Powis, Zöe ; Towne, Meghan C. ; Hagman, Kelly D.F....
Clinical Genetics. 97 (2019) 2 - p. 305-311 , 2019

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

13

Exome Secondary Findings identifies an incidental FH preval..:

Castro, Andrew ; Blanco, Kirsten ; Johnston, Tami...
Journal of Clinical Lipidology. 13 (2019) 3 - p. e19-e20 , 2019

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

14

Spatially clustering de novo variants in CYFIP2, encoding t..:

Deciphering Developmental Disorders (DDD) Study ; Zweier, Markus ; Begemann, Anaïs...
European Journal of Human Genetics. 27 (2019) 5 - p. 747-759 , 2019

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

15

MAGEL2‐related disorders: A study and case series:

Patak, Jameson ; Gilfert, James ; Byler, Melissa...
Clinical Genetics. 96 (2019) 6 - p. 493-505 , 2019

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