E-LIB Suche - Ergebnisse für: Ahting, Uwe

1

The p.Ala2430Val mutation in filamin C causes a "hypertroph..:

Schänzer, Anne ; Schumann, Elisabeth ; Zengeler, Diana...
Journal of Muscle Research and Cell Motility. 42 (2021) 2 - p. 381-397 , 2021

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

2

De novo stop-loss variants in CLDN11 cause hypomyelinating ..:

Riedhammer, Korbinian M ; Stockler, Sylvia ; Ploski, Rafal...
Brain. 144 (2020) 2 - p. 411-419 , 2020

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

3

Mitochondrial DNA mutation analysis from exome sequencing—A..:

Wagner, Matias ; Berutti, Riccardo ; Lorenz‐Depiereux, Bettina...
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 909-917 , 2019

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

4

Diverse phenotype in patients with complex I deficiency due..:

Reinson, Karit ; Kovacs-Nagy, Reka ; Õiglane-Shlik, Eve...
European Journal of Medical Genetics. 62 (2019) 11 - p. 103572 , 2019

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

5

Biallelic variants in the transcription factor PAX7 are a n..:

Feichtinger, René G. ; Mucha, Bettina E. ; Hengel, Holger...
Genetics in Medicine. 21 (2019) 11 - p. 2521-2531 , 2019

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

6

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegene..:

Van Bergen, Nicole J ; Guo, Yiran ; Rankin, Julia...
Brain. 142 (2018) 1 - p. 50-58 , 2018

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

7

Characterization of a Leber's hereditary optic neuropathy (..:

Catarino, Claudia B. ; Ahting, Uwe ; Gusic, Mirjana...
Mitochondrion. 36 (2017) - p. 15-20 , 2017

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

8

Spectrum of combined respiratory chain defects:

Mayr, Johannes A. ; Haack, Tobias B. ; Freisinger, Peter...
Journal of Inherited Metabolic Disease. 38 (2015) 4 - p. 629-640 , 2015

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

9

Clinical, biochemical, and genetic spectrum of seven patien..:

Ahting, Uwe ; Mayr, Johannes A. ; Vanlander, Arnaud V....
Frontiers in Genetics. 6 (2015) - p. , 2015

Link: https://doi.org/10.3389/..

10

Mutations in TTC19: expanding the molecular, clinical and b..:

Koch, Johannes ; Freisinger, Peter ; Feichtinger, René G...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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

11

Phenotypic spectrum of eleven patients and five novel MTFMT..:

Haack, Tobias B. ; Gorza, Matteo ; Danhauser, Katharina...
Molecular Genetics and Metabolism. 111 (2014) 3 - p. 342-352 , 2014

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

12

Sengers syndrome: six novel AGK mutations in seven new fami..:

Haghighi, Alireza ; Haack, Tobias B ; Atiq, Mehnaz...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

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

13

Correction: Alterations of Red Cell Membrane Properties in ..:

Siegl, Claudia ; Hamminger, Patricia ; Jank, Herbert...
PLoS ONE. 8 (2013) 10 - p. , 2013

Link: https://doi.org/10.1371/..

14

Adult mitochondrial DNA depletion syndrome with mild manife..:

Finsterer, Josef ; Kovacs, Gabor G. ; Ahting, Uwe
Neurology International. 5 (2013) 2 - p. 9 , 2013

Link: https://doi.org/10.4081/..

15

Mitochondrial Depletion Syndromes in Children and Adults:

Finsterer, Josef ; Ahting, Uwe
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 40 (2013) 5 - p. 635-644 , 2013

Link: https://doi.org/10.1017/..