E-LIB Suche - Ergebnisse für: Vuocolo, Blake

1

Cover:

German, Ryan J. ; Vuocolo, Blake ; Vossaert, Liesbeth...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

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

2

Improving access to exome sequencing in a medically underse..:

Vuocolo, Blake ; German, Ryan J. ; Lalani, Seema R....
Genetics in Medicine. 26 (2024) 6 - p. 101102 , 2024

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

3

Families' experiences accessing care after genomic sequenci..:

Vuocolo, Blake ; Gutierrez, Amanda M. ; Robinson, Jill O....
Journal of Genetic Counseling. , 2024

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

4

P513: Project GIVE: Expanding genetic testing to underserve..:

Vuocolo, Blake ; Sierra, Roberta ; Brooks, Dan...
Genetics in Medicine Open. 2 (2024) - p. 101412 , 2024

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

5

O19: Antisense oligonucleotide targeting a linked-SNP provi..:

Wang, Christiana ; Li, Shenglan ; Zhao, Sen...
Genetics in Medicine Open. 2 (2024) - p. 101017 , 2024

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

6

Novel hemizygous single‐nucleotide duplication in RPGR in a..:

German, Ryan J. ; Vuocolo, Blake ; Vossaert, Liesbeth...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

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

7

P495: Improving access to exome sequencing in medically und..:

Vuocolo, Blake ; German, Ryan ; Bacino, Carlos...
Genetics in Medicine Open. 2 (2024) - p. 101394 , 2024

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

8

P374: Project GIVE: Expanding genetic testing to underserve..:

Brooks, Dan ; Vuocolo, Blake ; Sierra, Roberta...
Genetics in Medicine Open. 1 (2023) 1 - p. 100410 , 2023

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

9

Precision therapy for a medically actionable ATP1A3 variant..:

Ford, Cara P. ; Littlejohn, Rebecca O. ; German, Ryan...
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

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

10

Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator..:

Vuocolo, Blake ; Holder Jr., J. Lloyd
Neuron. 106 (2020) 3 - p. 357-358 , 2020

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

11

Reducing Time to Diagnosis of Rare Genetic Diseases in a Me..:

Vuocolo, Blake ; Sierra, Roberta ; Brooks, Dan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760238/. , 2023

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

12

Precision therapy for a medically actionable ATP1A3 variant..:

Ford, Cara P ; Littlejohn, Rebecca O ; German, Ryan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10724509/. , 2023

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

13

Transmitter release site organization can predict synaptic ..:

Laghaei, Rozita ; Ma, Jun ; Tarr, Tyler B...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966726/. , 2018

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

14

Precision therapy for a medically actionable ATP1A3 variant..:

Cara P. Ford ; Rebecca O. Littlejohn ; Ryan German...
https://doi.org/10.1002/mgg3.2272. , 2023

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

15

P374: Project GIVE: Expanding genetic testing to underserve..:

Dan Brooks ; Blake Vuocolo ; Roberta Sierra...
http://www.sciencedirect.com/science/article/pii/S2949774423004107. , 2023

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