E-LIB Suche - Ergebnisse für: Mew, Nicholas Ah

1

Assessing the functional impact of ASL missense variants us..:

Tang, Michelle ; Cromie, Gareth ; Lo, Russell...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108199 , 2024

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

2

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine. 26 (2024) 4 - p. 101039 , 2024

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

3

A ten-year retrospective analysis of urea cycle disorder di..:

MacLeod, Erin ; Failla, Allison ; Simpson, Kara.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108232 , 2024

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

4

P024: Role of muscle biopsy and exome re-analysis in a myst..:

Pickup, Elizabeth ; Sen, Kuntal ; Moore, Steven...
Genetics in Medicine Open. 2 (2024) - p. 100901 , 2024

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

5

P007: PP4 criteria specifications for proximal urea cycle d..:

Simpson, Kara ; Mew, Nicholas Ah ; Caldovic, Ljubica...
Genetics in Medicine Open. 2 (2024) - p. 100884 , 2024

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

6

Thiamine responsive MSUD due to splice altering variants: C..:

Billington, Charles ; MacLeod, Erin ; Jacobson, Jenny...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108183 , 2024

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

7

Severity-adjusted evaluation of initial dialysis on short-t..:

Zielonka, Matthias ; Kölker, Stefan ; Garbade, Sven F....
Molecular Genetics and Metabolism. 143 (2024) 1-2 - p. 108566 , 2024

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

8

BIOMARKERS FOR BIOCHEMICAL, PATHOPHYSIOLOGICAL, AND NEUROLO..:

Caldovic, Ljubica ; Li, Tina ; Sonaimuthu, Parthasarathy...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107395 , 2023

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

9

O04: Developing a framework for sequence variant interpreta..:

Groopman, Emily ; Thomas-Wilson, Amanda ; Mohan, Shruthi...
Genetics in Medicine Open. 1 (2023) 1 - p. 100005 , 2023

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

10

CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES:

Simpson, Kara ; Mew, Nicholas Ah. ; Caldovic, Ljubica...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107488 , 2023

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

11

Domino liver transplantation: Expanding the liver donor poo..:

Ekong, Udeme D. ; Reddy, Sahithi ; Yazigi, Nada...
Liver Transplantation. 28 (2022) 12 - p. 1947-1950 , 2022

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

12

Correction to: 1-13C-propionate breath testing as a surroga..:

Manoli, Irini ; Pass, Alexandra R. ; Harrington, Elizabeth A....
Genetics in Medicine. 23 (2021) 11 - p. 2233 , 2021

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

13

1-13C-propionate breath testing as a surrogate endpoint to ..:

Manoli, Irini ; Pass, Alexandra R. ; Harrington, Elizabeth A....
Genetics in Medicine. 23 (2021) 8 - p. 1522-1533 , 2021

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

14

Choosing between medical management and liver transplant in..:

Gerstein, Maya T. ; Markus, Anne R. ; Gianattasio, Kan Z....
Journal of Inherited Metabolic Disease. 43 (2020) 3 - p. 438-458 , 2020

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

15

How a baby with classic galactosemia was nearly missed: Whe..:

Viall, Sarah ; Calhoun, Amy ; Mew, Nicholas Ah.
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1750-1753 , 2020

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