E-LIB Suche - Ergebnisse für: Reunert, J.

1

Refining the dermatological spectrum in primary immunodefic..:

Wiegmann, H. ; Reunert, J. ; Metze, D....
British Journal of Dermatology. , 2019

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

2

QIL1-dependent assembly of MICOS complex–lethal mutation in..:

Gödiker, J. ; Grüneberg, M. ; DuChesne, I....
Journal of Human Genetics. 63 (2018) 6 - p. 707-716 , 2018

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

3

A new case of UDP‐galactose transporter deficiency (SLC35A2..:

Dörre, K. ; Olczak, M. ; Wada, Y....
Journal of Inherited Metabolic Disease. 38 (2015) 5 - p. 931-940 , 2015

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

4

ALG1-CDG: A new case with early fatal outcome:

Rohlfing, A.-K. ; Rust, S. ; Reunert, J....
Gene. 534 (2014) 2 - p. 345-351 , 2014

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

5

Life with too much polyprenol: polyprenol reductase deficie..:

Gründahl, J.E.H. ; Guan, Z. ; Rust, S....
Molecular Genetics and Metabolism. 105 (2012) 4 - p. 642-651 , 2012

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

6

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT..:

Würde, A.E. ; Reunert, J. ; Rust, S....
Molecular Genetics and Metabolism. 105 (2012) 4 - p. 634-641 , 2012

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

7

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suff..:

Penkl, Maximilian ; Mayr, Johannes A. ; Feichtinger, René G....
Metabolites. 14 (2024) 4 - p. 238 , 2024

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

8

Mitochondrial DNA mutations in Medulloblastoma:

Funke, Viktoria L. E. ; Sandmann, Sarah ; Melcher, Viktoria...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

9

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients:

Klank, Sabrina ; van Stein, Christina ; Grüneberg, Marianne...
Pharmaceutics. 15 (2023) 7 - p. 1851 , 2023

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

10

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosi..:

Quitmann, Christina M. ; Rust, Stephan ; Reunert, Janine...
Child Neurology Open. 8 (2021) - p. 2329048X2110349 , 2021

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

11

Uridine Treatment of the First Known Case of SLC25A36 Defic..:

Jasper, Luisa ; Scarcia, Pasquale ; Rust, Stephan...
International Journal of Molecular Sciences. 22 (2021) 18 - p. 9929 , 2021

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

12

A comparison of immediate release and delayed release cyste..:

van Stein, Christina ; Klank, Sabrina ; Grüneberg, Marianne...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

13

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore R. ; Reining, Sophie...
Movement Disorders. 37 (2021) 1 - p. 137-147 , 2021

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

14

Hypertransaminasemia and liver fibrosis associated with hap..:

Gunzer, Sophia ; Kraus, Andreas ; Buchroth, Inka...
Liver International. 41 (2021) 10 - p. 2427-2432 , 2021

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

15

A mutation in the neonatal isoform of SCN2A causes neonatal..:

Penkl, Anja ; Reunert, Janine ; Debus, Otfried M....
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 941-947 , 2021

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