E-LIB Suche - Ergebnisse für: Koppes, Erik A.

1

O17: Characterizing pathogenicity of ACADVL variants in ver..:

Sethuraman, Meena ; Koppes, Erik ; Scola, Kaitlyn...
Genetics in Medicine Open. 2 (2024) - p. 100873 , 2024

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

2

Insulin secretion deficits in a Prader-Willi syndrome β-cel..:

Koppes, Erik A. ; Johnson, Marie A. ; Moresco, James J....
PLOS Genetics. 19 (2023) 4 - p. e1010710 , 2023

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

3

OP003: Characterization of variants of uncertain significan..:

D'Annibale, Olivia ; Sethuraman, Meena ; Koppes, Erik..
Genetics in Medicine. 24 (2022) 3 - p. S334-S335 , 2022

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

4

Characterization of exonic variants of uncertain significan..:

D'Annibale, Olivia M. ; Koppes, Erik A. ; Sethuraman, Meena...
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 529-540 , 2022

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

5

Mitochondrial dysfunction associated with TANGO2 deficiency:

Heiman, Paige ; Mohsen, Al-Walid ; Karunanidhi, Anuradha...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

6

CHARACTERIZATION OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN V..:

Dannibale, Olivia ; Sethuraman, Meena ; Koppes, Erik..
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 253-254 , 2022

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

7

Characterization of variants of uncertain significance in i..:

D'Annibale, Olivia M. ; Koppes, Erik A. ; Alodaib, Ahmad N....
Molecular Genetics and Metabolism. 134 (2021) 1-2 - p. 29-36 , 2021

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

8

A porcine model of phenylketonuria generated by CRISPR/Cas9..:

Koppes, Erik A. ; Redel, Bethany K. ; Johnson, Marie A....
JCI Insight. 5 (2020) 20 - p. , 2020

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

9

Conditional depletion ofFusin oligodendrocytes leads to mot..:

Guzman, Kelly M. ; Brink, Lauren E. ; Rodriguez‐Bey, Guillermo...
Glia. 68 (2020) 10 - p. 2040-2056 , 2020

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

10

Klf14 is an imprinted transcription factor that regulates p..:

Koppes, Erik ; Shaffer, Ben ; Sadovsky, Elena...
Placenta. 88 (2019) - p. 61-67 , 2019

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

11

Partial Loss of Genomic Imprinting Reveals Important Roles ..:

Koppes, Erik ; Himes, Katherine P. ; Chaillet, J. Richard.
PLOS ONE. 10 (2015) 8 - p. e0135202 , 2015

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

12

Insulin secretion deficits in a Prader-Willi syndrome β-cel..:

Koppes, Erik A ; Johnson, Marie A ; Moresco, James J...
10.1371/journal.pgen.1010710. , 2023

Link: https://hdl.handle.net/1..

13

Characterization of exonic variants of uncertain significan..:

D'Annibale, Olivia M ; Koppes, Erik A ; Sethuraman, Meena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9090957/. , 2022

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

14

Characterization of variants of uncertain significance in i..:

D'Annibale, Olivia M ; Koppes, Erik A ; Alodaib, Ahmad N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8578405/. , 2021

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

15

A porcine model of phenylketonuria generated by CRISPR/Cas9..:

Koppes, Erik A ; Redel, Bethany K ; Johnson, Marie A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605535/. , 2020

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