E-LIB Suche - Ergebnisse für: Rumping, Lynne

1

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics. 143 (2024) 6 - p. 761-773 , 2024

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

2

A second case of glutaminase hyperactivity: Expanding the p..:

Rumping, Lynne ; Pouwels, Petra J. W. ; Wolf, Nicole I....
JIMD Reports. 64 (2023) 3 - p. 217-222 , 2023

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

3

"Hypothesis: Patient with possible disturbance in programme..:

Rumping, Lynne ; Hennekam, Raoul C. M. ; Alders, Mariëlle.
European Journal of Human Genetics. 31 (2022) 1 - p. 16-17 , 2022

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

4

Terminal osseous dysplasia with pigmentary defects and card..:

Rumping, Lynne ; Wessels, Marja W. ; Postma, Alex V....
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3814-3820 , 2021

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

5

Metabolic fingerprinting reveals extensive consequences of ..:

Rumping, Lynne ; Pras-Raves, Mia L. ; Gerrits, Johan...
Biochimica et Biophysica Acta (BBA) - General Subjects. 1864 (2020) 3 - p. 129484 , 2020

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

6

Inborn errors of enzymes in glutamate metabolism:

Rumping, Lynne ; Vringer, Esmee ; Houwen, Roderick H. J....
Journal of Inherited Metabolic Disease. 43 (2019) 2 - p. 200-215 , 2019

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

7

GLS hyperactivity causes glutamate excess, infantile catara..:

Rumping, Lynne ; Tessadori, Federico ; Pouwels, Petra J W...
Human Molecular Genetics. 28 (2018) 1 - p. 96-104 , 2018

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

8

Seroconversion to HCoV-NL63 in Rhesus Macaques:

Dijkman, Ronald ; Mulder, H. Lie ; Rumping, Lynne...
Viruses. 1 (2009) 3 - p. 647-656 , 2009

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

9

Multicenter Clinical and Functional Evidence Reclassifies a..:

O'Neill, Matthew J ; Chen, Suet Nee ; Rumping, Lynne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530503/. , 2023

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

10

"Hypothesis: Patient with possible disturbance in programme..:

Rumping, Lynne ; Hennekam, Raoul C. M ; Alders, Mariëlle.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822888/. , 2022

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

11

Terminal osseous dysplasia with pigmentary defects and card..:

Rumping, Lynne ; Wessels, Marja W ; Postma, Alex V...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292317/. , 2021

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

12

Terminal osseous dysplasia with pigmentary defects and card..:

Rumping, Lynne ; Wessels, Marja W ; Postma, Alex V...
Rumping , L , Wessels , M W , Postma , A V , van Schuppen , J , van Slegtenhorst , M A , Saris , J J , van Tintelen , J P , Robertson , S P , Alders , M , Maas , S M & Deprez , R H L 2021 , ' Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant ' , American Journal of Medical Genetics, Part A , vol. 185 , no. 12 , pp. 3814-3820 . https://doi.org/10.1002/ajmg.a.62417. , 2021

Link: https://pure.eur.nl/en/p..

13

Glutamate metabolism revisited : Clarifying the pathophysio..:

Rumping, Lynne
https://dspace.library.uu.nl/handle/1874/379706. , 2019

Link: https://dspace.library.u..

14

Inborn errors of enzymes in glutamate metabolism:

Rumping, Lynne ; Vringer, Esmee ; Houwen, Roderick H. J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078983/. , 2019

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

15

Identification of a Loss-of-Function Mutation in the Contex..:

Rumping, Lynne ; Büttner, Benjamin ; Maier, Oliver...
2168-6149. , 2019

Link: https://dspace.library.u..