E-LIB Suche - Ergebnisse für: Kripps, Kimberly

1

PYRIDOXINE DEPENDENT EPILEPSY: IDENTIFICATION OF A FOUNDER ..:

Kripps, Kimberly ; Harding, Cary ; Yang, Amy
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107438 , 2023

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

2

Rubella virus‐associated necrotizing granulomatous inflamma..:

Pimentel, Matthew A. ; Kim, Donna H. ; Walker, Lorne W....
Pediatric Dermatology. 40 (2023) 6 - p. 1107-1111 , 2023

Link: https://doi.org/10.1111/..

3

Loss of FOCAD, operating via the SKI messenger RNA surveill..:

Moreno Traspas, Ricardo ; Teoh, Tze Shin ; Wong, Pui-Mun...
Nature Genetics. 54 (2022) 8 - p. 1214-1226 , 2022

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

4

Anabolism: Practical Strategies:

, In: Nutrition Management of Inherited Metabolic Diseases,

Kripps, Kimberly A. ; Van Hove, Johan L. K. - p. 59-64 , 2022

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

5

REVIEW: Practical strategies to maintain anabolism by intra..:

Kripps, Kimberly A. ; Baker II, Peter R. ; Thomas, Janet A....
Molecular Genetics and Metabolism. 133 (2021) 3 - p. 231-241 , 2021

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

6

Methionine synthase deficiency: Variable clinical presentat..:

Kripps, Kimberly A. ; Sremba, Leighann ; Larson, Austin A....
Journal of Inherited Metabolic Disease. 45 (2021) 2 - p. 157-168 , 2021

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

7

A Novel Intronic Pathogenic Variant in STAR With a Dominant..:

Finn, Erin ; Kripps, Kimberly ; Chambers, Christina...
Journal of Investigative Medicine High Impact Case Reports. 9 (2021) - p. 232470962110146 , 2021

Link: https://doi.org/10.1177/..

8

Contributors:

, In: Mitochondrial Disease Genes Compendium,

de Barcelos, Isabella Peixoto ; Falk, Marni J. ; Gai, Xiaowu... - p. xiii-xiv , 2020

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

9

Unusual Neuroimaging in a Case of Rapidly Progressive Juven..:

Kripps, Kimberly ; Kierstein, Janell ; Nicklas, Daniel...
Journal of Child Neurology. 35 (2020) 10 - p. 649-653 , 2020

Link: https://doi.org/10.1177/..

10

A novel acceptor stem variant in mitochondrial tRNATyr impa..:

Kripps, Kimberly A. ; Friederich, Marisa W. ; Chen, Ting...
Molecular Genetics and Metabolism. 131 (2020) 4 - p. 398-404 , 2020

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

11

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique ..:

Emrick, Lisa T. ; Rosenfeld, Jill A. ; Lalani, Seema R....
Genetics in Medicine. 21 (2019) 7 - p. 1652-1656 , 2019

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

12

Glutathione transferase A4-4 resists adduction by 4-hydroxy..:

Shireman, Laura M. ; Kripps, Kimberly A. ; Balogh, Larissa M....
Archives of Biochemistry and Biophysics. 504 (2010) 2 - p. 182-189 , 2010

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

13

Substrate Specificity Combined with Stereopromiscuity in Gl..:

Balogh, Larissa M. ; Le Trong, Isolde ; Kripps, Kimberly A....
Biochemistry. 49 (2010) 7 - p. 1541-1548 , 2010

Link: https://doi.org/10.1021/..

14

Structural Analysis of a Glutathione Transferase A1-1 Mutan..:

Balogh, Larissa M. ; Le Trong, Isolde ; Kripps, Kimberly A....
Biochemistry. 48 (2009) 32 - p. 7698-7704 , 2009

Link: https://doi.org/10.1021/..

15

A Novel Intronic Pathogenic Variant in STAR With a Dominant..:

Finn, Erin ; Kripps, Kimberly ; Chambers, Christina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114284/. , 2021

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