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Works matching AU Betzler, Cornelia

Results: 2

1

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Published in:

Nephron, 2020, v. 144, n. 3, p. 156, doi. 10.1159/000504412

By:

Lorenz, Robin;
Ahting, Uwe;
Betzler, Cornelia;
Heimering, Sigrid;
Borggräfe, Ingo;
Lange-Sperandio, Bärbel

Publication type:

Article

2

CAD mutations and uridine-responsive epileptic encephalopathy.

Published in:

2017

By:

Koch, Johannes;
Mayr, Johannes A.;
Alhaddad, Bader;
Rauscher, Christian;
Bierau, Jörgen;
Kovacs-Nagy, Reka;
Coene, Karlien L. M.;
Bader, Ingrid;
Holzhacker, Monika;
Prokisch, Holger;
Venselaar, Hanka;
Wevers, Ron A.;
Distelmaier, Felix;
Polster, Tilman;
Leiz, Steffen;
Betzler, Cornelia;
Strom, Tim M.;
Sperl, Wolfgang;
Meitinger, Thomas;
Wortmann, Saskia B.

Publication type:

journal article