E-LIB Suche - Ergebnisse für: Bloom, Kaitlyn

1

Biochemical diagnosis of fumarate hydratase (FH) deficiency:

Madya, Monica ; Cahill, Alan ; Bloom, Kaitlyn...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108285 , 2024

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

2

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/..

3

Metabolic features of treatment-refractory major depressive..:

Pan, Lisa A. ; Naviaux, Jane C. ; Wang, Lin...
Translational Psychiatry. 13 (2023) 1 - p. , 2023

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

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

ACAD10 protein expression and Neurobehavioral assessment of..:

Bloom, Kaitlyn ; Karunanidhi, Anuradha ; Tobita, Kimimasa...
PLOS ONE. 15 (2020) 12 - p. e0242445 , 2020

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

6

Investigating the link of ACAD10 deficiency to type 2 diabe..:

Bloom, Kaitlyn ; Mohsen, Al‐Walid ; Karunanidhi, Anuradha...
Journal of Inherited Metabolic Disease. 41 (2017) 1 - p. 49-57 , 2017

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

7

A Quantitative Method for the Measurement of Dried Blood Sp..:

Bloom, Kaitlyn ; Ditewig Meyers, Gail ; Bennett, Michael J
The Journal of Applied Laboratory Medicine. 1 (2016) 3 - p. 271-279 , 2016

Link: https://doi.org/10.1373/..

8

Clinical and biochemical characterization of four patients ..:

Ferdinandusse, Sacha ; Friederich, Marisa W. ; Burlina, Alberto...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

9

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...

10

Investigating the link of ACAD10 deficiency to type 2 diabe..:

Bloom, Kaitlyn ; Mohsen, Al-Walid ; Karunanidhi, Anuradha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524623/. , 2017

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

11

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acido..:

Ganetzky, Rebecca D ; Bloom, Kaitlyn ; Ahrens-Nicklas, Rebecca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110442/. , 2016

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

12

Clinical and biochemical characterization of four patients ..:

Ferdinandusse, Sacha ; Friederich, Marisa ; Burlina, Alberto...
http://www.ojrd.com/content/10/1/79. , 2015

Link: http://www.ojrd.com/cont..

13

Metabolic features of treatment-refractory major depressive..:

Lisa A. Pan ; Jane C. Naviaux ; Lin Wang...
https://doi.org/10.1038/s41398-023-02696-9. , 2023

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

14

ACAD10 protein expression and Neurobehavioral assessment of..:

Kaitlyn Bloom ; Anuradha Karunanidhi ; Kimimasa Tobita...
https://doi.org/10.1371/journal.pone.0242445. , 2020

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

15

Osmolyte influence on stability and oligomerization dynamic..:

Parrott, Kaitlyn J. ; Bloom, Linda B. ; Levitus, Marcia
Biophysical Journal. 123 (2024) 3 - p. 346a-347a , 2024

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