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

2

Rapid hepatitis C virus point-of-care RNA testing and treat..:

Lettner, Bernadette ; Mason, Kate ; Greenwald, Zoë R....
The Lancet Regional Health - Americas. 22 (2023) - p. 100490 , 2023

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

3

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/..

4

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/..

5

Rapid hepatitis C virus point-of-care RNA testing and treat..:

Lettner, Bernadette ; Mason, Kate ; Greenwald, Zoë R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300568/. , 2023

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

6

Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E ; Pusch, Michael ; Picollo, Alessandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01852-9. , 2023

Link: https://hal.science/hal-..

7

De novo coding variants in the AGO1 gene cause a neurodevel..:

SCHALK, Audrey ; COUSIN, Margot A ; DSOUZA, Nikita R...
https://oskar-bordeaux.fr/handle/20.500.12278/184714. , 2023

Link: https://oskar-bordeaux.f..

8

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

Kailey Owens ; Jonathon Lutz ; Zoe Powis
http://www.sciencedirect.com/science/article/pii/S2949774423005782. , 2023

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

9

Functional and clinical studies reveal pathophysiological c..:

PALMER, Elizabeth E ; PUSCH, Michael ; PICOLLO, Alessandra...
1476-5578. , 2023

Link: https://oskar-bordeaux.f..

10

PSMC3 proteasome subunit variants are associated with neuro..:

Ebstein, Frédéric ; Küry, Sébastien ; Most, Victoria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/. , 2023

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

11

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

Zoe Powis ; Meagan Nashawaty ; Andrea Paal.
http://www.sciencedirect.com/science/article/pii/S2949774423002996. , 2023

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

12

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/..

13

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/..

14

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
https://eprints.soton.ac.uk/454960/1/AJHG_D_21_00815_R2_accepted.pdf. , 2022

Link: https://eprints.soton.ac..

15

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
boreal:263802. , 2022

Link: http://hdl.handle.net/20..