E-LIB Suche - Ergebnisse für: Bürer, Céline

1

Dynamic inter-domain transformations mediate the allosteric..:

Blomgren, Linnea K. M. ; Huber, Melanie ; Mackinnon, Sabrina R....
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

Insights into energy balance dysregulation from a mouse mod..:

Lucienne, Marie ; Gerlini, Raffaele ; Rathkolb, Birgit...
Human Molecular Genetics. 32 (2023) 17 - p. 2717-2734 , 2023

Link: https://doi.org/10.1093/..

3

Integrated multi-omics reveals anaplerotic rewiring in meth..:

Forny, Patrick ; Bonilla, Ximena ; Lamparter, David...
Nature Metabolism. 5 (2023) 1 - p. 80-95 , 2023

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

4

Cellular and computational models reveal environmental and ..:

Ramon, Charlotte ; Traversi, Florian ; Bürer, Céline..
Journal of Inherited Metabolic Disease. 46 (2022) 3 - p. 421-435 , 2022

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

5

Spectrum and characterization of bi-allelic variants in MMA..:

Forny, Patrick ; Plessl, Tanja ; Frei, Caroline...
Human Genetics. 141 (2021) 7 - p. 1253-1267 , 2021

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

6

Shifting landscapes of human MTHFR missense-variant effects:

Weile, Jochen ; Kishore, Nishka ; Sun, Song...
The American Journal of Human Genetics. 108 (2021) 7 - p. 1283-1300 , 2021

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

7

Identification of small molecule allosteric modulators of 5..:

Bezerra, Gustavo A. ; Holenstein, Alexander ; Foster, William R....
Biochimie. 183 (2021) - p. 100-107 , 2021

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

8

Genetic, structural, and functional analysis of pathogenic ..:

Heuberger, Kathrin ; Bailey, Henry J. ; Burda, Patricie...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1865 (2019) 6 - p. 1265-1272 , 2019

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

9

Sitosterolemia—10 years observation in two sisters:

Veit, Lara ; Allegri Machado, Gabriella ; Bürer, Céline..
JIMD Reports. 48 (2019) 1 - p. 4-10 , 2019

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

10

Protein destabilization and loss of protein‐protein interac..:

Plessl, Tanja ; Bürer, Céline ; Lutz, Seraina...
Human Mutation. 38 (2017) 8 - p. 988-1001 , 2017

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

11

The value of plasma vitamin B6 profiles in early onset epil..:

Mathis, Déborah ; Abela, Lucia ; Albersen, Monique...
Journal of Inherited Metabolic Disease. 39 (2016) 5 - p. 733-741 , 2016

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

12

Insights into Severe 5,10-Methylenetetrahydrofolate Reducta..:

Burda, Patricie ; Schäfer, Alexandra ; Suormala, Terttu...
Human Mutation. 36 (2015) 6 - p. 611-621 , 2015

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

13

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in ..:

Abdalla, Ebtesam M. ; Rohrbach, Marianne ; Bürer, Céline...
European Journal of Pediatrics. 174 (2014) 1 - p. 105-112 , 2014

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

14

ZNF469 frequently mutated in the brittle cornea syndrome (B..:

Rohrbach, Marianne ; Spencer, Helen L. ; Porter, Louise F....
Molecular Genetics and Metabolism. 109 (2013) 3 - p. 289-295 , 2013

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

15

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, bioc..:

Grünert, Sarah C ; Stucki, Martin ; Morscher, Raphael J...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. , 2012

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