E-LIB Suche - Ergebnisse für: Diez-Fernandez, Carmen

1

ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON ..:

Makris, Georgios ; Kayhan, Semih ; Kreuzer, Marvin...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 284-285 , 2022

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

2

Clinical and structural insights into potential dominant ne..:

Makris, Georgios ; Lauber, Matthias ; Rüfenacht, Véronique...
Biochimie. 183 (2021) - p. 89-99 , 2021

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

3

Cover Image, Volume 39, Issue 8:

Diez-Fernandez, Carmen ; Rüfenacht, Véronique ; Gemperle, Corinne..
Human Mutation. 39 (2018) 8 - p. i-i , 2018

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

4

Mutations and common variants in the human arginase 1 (ARG1..:

Diez-Fernandez, Carmen ; Rüfenacht, Véronique ; Gemperle, Corinne..
Human Mutation. 39 (2018) 8 - p. 1029-1050 , 2018

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

5

Mutations in the Human Argininosuccinate Synthetase (ASS1) ..:

Diez-Fernandez, Carmen ; Rüfenacht, Véronique ; Häberle, Johannes
Human Mutation. 38 (2017) 5 - p. 471-484 , 2017

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

6

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rar..:

Spodenkiewicz, Marta ; Diez-Fernandez, Carmen ; Rüfenacht, Véronique..
Biology. 5 (2016) 4 - p. 40 , 2016

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

7

Defective hepatic bicarbonate production due to carbonic an..:

Diez-Fernandez, Carmen ; Rüfenacht, Véronique ; Santra, Saikat...
Genetics in Medicine. 18 (2016) 10 - p. 991-1000 , 2016

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

8

Structure of human carbamoyl phosphate synthetase: decipher..:

de Cima, Sergio ; Polo, Luis M. ; Díez-Fernández, Carmen...
Scientific Reports. 5 (2015) 1 - p. , 2015

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

9

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sh..:

Díez-Fernández, Carmen ; Gallego, José ; Häberle, Johannes..
Journal of Genetics and Genomics. 42 (2015) 5 - p. 249-260 , 2015

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

10

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) defic..:

Hu, Liyan ; Diez-Fernandez, Carmen ; Rüfenacht, Véronique...
Molecular Genetics and Metabolism. 113 (2014) 4 - p. 267-273 , 2014

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

11

Understanding carbamoyl phosphate synthetase (CPS1) deficie..:

Díez-Fernández, Carmen ; Hu, Liyan ; Cervera, Javier..
Molecular Genetics and Metabolism. 112 (2014) 2 - p. 123-132 , 2014

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

12

Molecular Characterization of Carbamoyl-Phosphate Synthetas..:

Diez-Fernandez, Carmen ; Martínez, Ana I. ; Pekkala, Satu...
Human Mutation. 34 (2013) 8 - p. 1149-1159 , 2013

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

13

Morphine and yohimbine regulate midkine gene expression in ..:

Ezquerra, Laura ; Pérez-García, Carmen ; Garrido, Elisa...
European Journal of Pharmacology. 557 (2007) 2-3 - p. 147-150 , 2007

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

14

Induction of Cardiac Uncoupling Protein-2 Expression and Ad..:

Somoza, Beatriz ; Guzmán, Rocío ; Cano, Victoria...
Endocrinology. 148 (2007) 3 - p. 924-931 , 2007

Link: https://doi.org/10.1210/..

15

Yohimbine prevents morphine-induced changes of glial fibril..:

Alonso, Elba ; Garrido, Elisa ; Díez-Fernández, Carmen...
Neuroscience Letters. 412 (2007) 2 - p. 163-167 , 2007

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