E-LIB Suche - Ergebnisse für: Zampaglione, Erin

1

Natural history of retinitis pigmentosa based on genotype, ..:

Comander, Jason ; Weigel DiFranco, Carol ; Sanderson, Kit...
JCI Insight. 8 (2023) 15 - p. , 2023

Link: https://doi.org/10.1172/..

2

The importance of automation in genetic diagnosis: Lessons ..:

Zampaglione, Erin ; Maher, Matthew ; Place, Emily M....
Genetics in Medicine. 24 (2022) 2 - p. 332-343 , 2022

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

3

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, Riccardo ; Deitch, Iris ; Peter, Virginie G....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

4

Copy-number variation contributes 9% of pathogenicity in th..:

Zampaglione, Erin ; Kinde, Benyam ; Place, Emily M....
Genetics in Medicine. 22 (2020) 6 - p. 1079-1087 , 2020

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

5

Large scale matching of function to the genetic identity of..:

Pisano, Filippo ; Zampaglione, Erin ; McAlinden, Niall...
Scientific Reports. 7 (2017) 1 - p. , 2017

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

6

Large scale matching of function to the genetic identity of..:

Pisano, Filippo ; Zampaglione, Erin ; McAlinden, Niall...
https://strathprints.strath.ac.uk/62335/1/Pisano_etal_SR_2017_Large_scale_matching_of_function_to_the_genetic_identity_of_retinal.pdf. , 2017

Link: https://strathprints.str..

7

Functional, Anatomical, and Genetic Characterization of Mou..:

Zampaglione, Erin Noelle
qt9470n872. , 2016

Link: https://escholarship.org..

8

Natural history of retinitis pigmentosa based on genotype, ..:

Jason Comander ; Carol Weigel DiFranco ; Kit Sanderson...
https://doi.org/10.1172/jci.insight.167546. , 2023

Link: https://doaj.org/article..

9

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Riccardo Sangermano ; Iris Deitch ; Virginie G. Peter...
https://doi.org/10.1038/s41525-021-00214-8. , 2021

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