E-LIB Suche - Ergebnisse für: Freed, Amanda S

1

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Brain. 146 (2023) 12 - p. 5198-5208 , 2023

2

ClinGen's Pediatric Actionability Working Group: Clinical a..:

Hunter, Jessica Ezzell ; Jenkins, Charisma L. ; Bulkley, Joanna E....
Genetics in Medicine. 24 (2022) 6 - p. 1328-1335 , 2022

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

3

ORCA, a values-based decision aid for selecting additional ..:

Liles, Elizabeth G. ; Leo, Michael C. ; Freed, Amanda S....
Genetics in Medicine. 24 (2022) 8 - p. 1664-1674 , 2022

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

4

A decision aid for additional findings in genomic sequencin..:

Freed, Amanda S. ; Gruß, Inga ; McMullen, Carmit K....
Patient Education and Counseling. 104 (2021) 5 - p. 960-968 , 2021

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

5

The Impact of Rapid Exome Sequencing on Medical Management ..:

Freed, Amanda S. ; Clowes Candadai, Sarah V. ; Sikes, Megan C....
The Journal of Pediatrics. 226 (2020) - p. 202-212.e1 , 2020

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

6

CHRNB1‐associated congenital myasthenia syndrome: Expanding..:

Freed, Amanda S. ; Schwarz, Anisha C. ; Brei, Brianna K....
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 827-835 , 2020

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

7

CNTNAP1 mutations in an adult with Charcot Marie Tooth dise..:

Freed, Amanda S. ; Weiss, Michael D. ; Malouf, Emily A..
Muscle & Nerve. 60 (2019) 5 - p. , 2019

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

8

Rapid clinical exome sequencing in a pediatric ICU: Genetic..:

Clowes Candadai, Sarah V. ; Sikes, Megan C. ; Thies, Jenny M...
Journal of Genetic Counseling. 28 (2019) 2 - p. 283-291 , 2019

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

9

Identification of a deletion containing TBX4 in a neonate w..:

German, Kendell ; Deutsch, Gail H. ; Freed, Amanda S....
American Journal of Medical Genetics Part A. 179 (2019) 5 - p. 842-845 , 2019

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

10

A Vault Nanoparticle Vaccine Induces Protective Mucosal Imm..:

Champion, Cheryl I. ; Kickhoefer, Valerie A. ; Liu, Guangchao...
PLoS ONE. 4 (2009) 4 - p. e5409 , 2009

Link: https://doi.org/10.1371/..

11

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
https://pure.au.dk/portal/en/publications/5e9a4c35-ce47-4395-8783-f8d929c14743. , 2023

Link: https://pure.au.dk/porta..

12

SLC6A1 variant pathogenicity, molecular function, and pheno..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
https://doi.org/10.1093/brain/awad292. , 2023

Link: http://orbilu.uni.lu/han..

13

ORCA, a values-based decision aid for selecting additional ..:

Liles, Elizabeth G ; Leo, Michael C ; Freed, Amanda S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586129/. , 2022

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

14

ClinGen's Pediatric Actionability Working Group: Clinical A..:

Hunter, Jessica Ezzell ; Jenkins, Charisma L ; Bulkley, Joanna E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9156571/. , 2022

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

15

A decision aid for additional findings in genomic sequencin..:

Freed, Amanda S ; Gruß, Inga ; McMullen, Carmit K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099937/. , 2020

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