E-LIB Suche - Ergebnisse für: Moser, Ann

1

P020: Recommendations from the ClinGen Peroxisomal Variant ..:

Mohan, Shruthi ; De Biase, Irene ; Yuzyuk, Tatiana...
Genetics in Medicine Open. 2 (2024) - p. 100897 , 2024

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

2

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/..

3

Evaluating the strength of evidence for genes implicated in..:

Mohan, Shruthi ; Mayers, Megan ; Weaver, Meredith...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107604 , 2023

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

4

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in..:

Gong, Yi ; Laheji, Fiza ; Berenson, Anna...
Annals of Neurology. 95 (2023) 3 - p. 442-458 , 2023

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

5

Greater sage‐grouse respond positively to intensive post‐fi..:

Poessel, Sharon A. ; Barnard, David M. ; Applestein, Cara...
Ecology and Evolution. 12 (2022) 3 - p. , 2022

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

6

Nervonic Acid Attenuates Accumulation of Very Long-Chain Fa..:

Terluk, Marcia R. ; Tieu, Julianne ; Sahasrabudhe, Siddhee A....
Neurotherapeutics. 19 (2022) 3 - p. 1007-1017 , 2022

Link: https://doi.org/10.1007/..

7

Evaluating the strength of evidence for genes implicated in..:

Mohan, Shruthi ; Weaver, Meredith ; Mayers, Megan...
Molecular Genetics and Metabolism. 132 (2021) - p. S236 , 2021

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

8

Psychosine-reducing molecules as potential therapies for gl..:

Katabuchi, Asaka ; Jang, Dae Song ; Hernandez, Jairo...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S86 , 2020

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

9

Consensus Guidelines: MRI Surveillance of Children with Pre..:

Turk, Bela ; Mallack, Eric ; Adang, Laura...
Neurology. 92 (2019) 15_supplement - p. , 2019

Link: https://doi.org/10.1212/..

10

Serendipitous effects of β-cyclodextrin on murine model of ..:

Katabuchi, Asaka U. ; Godoy, Vivian ; Shil, Priya..
Molecular Genetics and Metabolism Reports. 15 (2018) - p. 98-99 , 2018

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

11

Peroxisomal biogenesis is genetically and biochemically lin..:

Wangler, Michael F. ; Chao, Yu-Hsin ; Bayat, Vafa...
PLOS Genetics. 13 (2017) 6 - p. e1006825 , 2017

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

12

The peroxisomal AAA ATPase complex prevents pexophagy and d..:

Law, Kelsey B. ; Bronte-Tinkew, Dana ; Di Pietro, Erminia...
Autophagy. 13 (2017) 5 - p. 868-884 , 2017

Link: https://doi.org/10.1080/..

13

Identification of psychosine-reducing small molecule agents..:

Jang, Dae Song ; Katabuchi, Asaka ; Solomon, Melani..
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S90 , 2017

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

14

Dataset for a case report of a homozygous PEX16 F332del mut..:

Bacino, Carlos ; Chao, Yu-Hsin ; Seto, Elaine...
Data in Brief. 6 (2016) - p. 722-727 , 2016

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

15

Newborn Screening for X-Linked Adrenoleukodystrophy:

Moser, Ann ; Jones, Richard ; Hubbard, Walter...
International Journal of Neonatal Screening. 2 (2016) 4 - p. 15 , 2016

Link: https://doi.org/10.3390/..