E-LIB Suche - Ergebnisse für: Donohue, Katherine J

1

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates ..:

Donohue, Katherine J. ; Fitzsimmons, Bethany ; Bruntz, Ronald C....
Neurotherapeutics. 20 (2023) 6 - p. 1808-1819 , 2023

Link: https://doi.org/10.1007/..

2

Developing a Pipeline for Personalized Diagnoses of Glut1 D..:

Griffith, Laiken ; Donohue, Katherine ; Abul‐Khoudoud, Maya.
The FASEB Journal. 36 (2022) S1 - p. , 2022

Link: https://doi.org/10.1096/..

3

eP067: Diagnostic yield of genome sequencing versus targete..:

Abul-Husn, Noura ; Kelly, Nicole ; Rodriguez, Jessica...
Genetics in Medicine. 24 (2022) 3 - p. S45 , 2022

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

4

Two Diseases—One Preclinical Treatment Targeting Glycogen S..:

Gentry, Matthew S. ; Markussen, Kia H. ; Donohue, Katherine J.
Neurotherapeutics. 19 (2022) 3 - p. 977-981 , 2022

Link: https://doi.org/10.1007/..

5

Novel microdeletions in the SOX5 gene in two patients with ..:

Guha, Saurav ; Donohue, Katherine ; Brown, Kaitlyn...
Molecular Genetics and Metabolism. 132 (2021) - p. S229-S230 , 2021

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

6

Genomic sequencing results disclosure in diverse and unders..:

Amendola, Laura ; Suckiel, Sabrina A. ; O'Daniel, Julianne...
Molecular Genetics and Metabolism. 132 (2021) - p. S201-S203 , 2021

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

7

Personalized Diagnosis of Lafora Disease through Biochemica..:

Donohue, Katherine ; Abul‐Khoudoud, Maya ; Vander Kooi, Craig.
The FASEB Journal. 35 (2021) S1 - p. , 2021

Link: https://doi.org/10.1096/..

8

Correction to: The NYCKidSeq project: study protocol for a ..:

Odgis, Jacqueline A. ; Gallagher, Katie M. ; Suckiel, Sabrina A....
Trials. 22 (2021) 1 - p. , 2021

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

9

Genomic Sequencing Results Disclosure in Diverse and Medica..:

Suckiel, Sabrina A. ; O'Daniel, Julianne M. ; Donohue, Katherine E....
Journal of Personalized Medicine. 11 (2021) 3 - p. 202 , 2021

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

10

"Is that something that should concern me?": a qualitative ..:

Watnick, Dana ; Odgis, Jacqueline A. ; Suckiel, Sabrina A....
Human Genetics and Genomics Advances. 2 (2021) 2 - p. 100027 , 2021

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

11

The NYCKidSeq project: study protocol for a randomized cont..:

Odgis, Jacqueline A. ; Gallagher, Katie M. ; Suckiel, Sabrina A....
Trials. 22 (2021) 1 - p. , 2021

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

12

Examining access to care in clinical genomic research and m..:

Gutierrez, Amanda M. ; Robinson, Jill O. ; Outram, Simon M....
Journal of Clinical and Translational Science. 5 (2021) 1 - p. , 2021

Link: https://doi.org/10.1017/..

13

Hope versus reality: Parent expectations of genomic testing:

Donohue, Katherine E. ; Dolan, Siobhan M. ; Watnick, Dana...
Patient Education and Counseling. 104 (2021) 8 - p. 2073-2079 , 2021

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

14

Pitfalls and challenges in genetic test interpretation: An ..:

Donohue, Katherine E. ; Gooch, Catherine ; Katz, Alexander...
Clinical Genetics. 99 (2021) 5 - p. 638-649 , 2021

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

15

What guidance does HIPAA offer to providers considering fam..:

Henrikson, Nora B ; Wagner, Jennifer K ; Hampel, Heather...
Journal of Law and the Biosciences. 7 (2020) 1 - p. , 2020

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