E-LIB Suche - Ergebnisse für: Vernon, Hilary

1

Allele-specific dysregulation of lipid and energy metabolis..:

Vaniya, Arpana ; Karlstaedt, Anja ; Gulkok, Damla...
Journal of Molecular and Cellular Cardiology Plus. 8 (2024) - p. 100073 , 2024

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

2

Metabolic Cases: Hypoglycemia in a Child:

, In: Genomics in the Clinic,

Vernon, Hilary J. - p. 301-302 , 2024

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

3

Metabolic Cases: Lactic Acidosis:

, In: Genomics in the Clinic,

Webb, Bryn D. ; Vernon, Hilary J. - p. 307-309 , 2024

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

4

P035: Metabolic profiling of cytosolic phosphoenolpyruvate ..:

Ehmsen, Jeffrey ; Weinstock, Nadav ; Ziegler, Shira...
Genetics in Medicine Open. 2 (2024) - p. 100912 , 2024

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

5

Lipodystrophy in methylmalonic acidemia associated with ele..:

Manoli, Irini ; Sysol, Justin R. ; Head, PamelaSara E....
JCI Insight. 9 (2024) 4 - p. , 2024

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

6

Contributors:

, In: Genomics in the Clinic,

Albokhari, Daniah ; Ayoubieh, Houriya ; Balwani, Manisha... - p. xv-xviii , 2024

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

7

Gastrointestinal Cases: Elevated Liver Transaminases in an ..:

, In: Genomics in the Clinic,

Vernon, Hilary J. - p. 275-276 , 2024

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

8

Use of novel iPSC-derived skeletal muscle model to understa..:

Lee, Kyuna ; Carney, Olivia Sniezek ; Harris, Kodi Williams.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108192 , 2024

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

9

Defective cardiomyocyte mitophagy in TAFAZZIN deficiency: N..:

Carney, Olivia Sniezek ; Lee, Kyuna ; Harris, Kodi Williams...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108196 , 2024

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

10

Long-term efficacy and safety of elamipretide in patients w..:

Thompson, William R. ; Manuel, Ryan ; Abbruscato, Anthony...
Genetics in Medicine. 26 (2024) 7 - p. 101138 , 2024

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

11

Selecting quantitative endpoints in Barth syndrome, an ultr..:

Vernon, Hilary ; Thompson, W. Reid ; Hornby, Brittany
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108163 , 2024

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

12

FGF21 and GDF15 are elevated in Barth Syndrome and are corr..:

Liu, Olivia ; Chinni, Bhargava Kumar ; Manlhiot, Cedric.
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107676 , 2023

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

13

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schiff, Manuel ; Schwahn, Bernd C. ; Chabrol, Brigitte...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107475 , 2023

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

14

The remarkable journey of one female individual with ornith..:

Forsyth, RaeLynn ; Peretz, Ryan H. ; Dempsey, Angela...
JIMD Reports. 64 (2023) 3 - p. 233-237 , 2023

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

15

O07: Optimization of positive investigational outcomes in B..:

Vernon, Hilary ; Hornby, Brittany ; Abbruscato, Anthony..
Genetics in Medicine Open. 1 (2023) 1 - p. 100008 , 2023

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