E-LIB Suche - Ergebnisse für: Gill, Esther

1

Defining in the doing: listening and reflecting in a commun..:

Prosser, Bethan Mathias ; Emerson, Bela ; Gill, Esther
Research for All. 7 (2023) 1 - p. , 2023

Link: https://doi.org/10.14324..

2

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Ac..:

, In: JIMD Reports; JIMD Reports, Volume 43,

von Renesse, Anja ; Morales-Gonzalez, Susanne ; Gill, Esther... - p. 27-35 , 2018

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

3

Autophagic vacuolar myopathy is a common feature of CLN3 di..:

Radke, Josefine ; Koll, Randi ; Gill, Esther...
Annals of Clinical and Translational Neurology. 5 (2018) 11 - p. 1385-1393 , 2018

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

4

Recessive mutation in EXOSC3 associates with mitochondrial ..:

Schottmann, Gudrun ; Picker-Minh, Sylvie ; Schwarz, Jana Marie...
Mitochondrion. 37 (2017) - p. 46-54 , 2017

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

5

A recessive mutation in beta-IV-spectrin (SPTBN4) associate..:

Knierim, Ellen ; Gill, Esther ; Seifert, Franziska...
Human Genetics. 136 (2017) 7 - p. 903-910 , 2017

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

6

Characterization of a Dmd EGFP reporter mouse as a tool to ..:

Petkova, Mina V. ; Morales-Gonzales, Susanne ; Relizani, Karima...
Skeletal Muscle. 6 (2016) 1 - p. , 2016

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

7

Kyphoscoliosis peptidase (KY) mutation causes a novel conge..:

Straussberg, Rachel ; Schottmann, Gudrun ; Sadeh, Menachem...
Acta Neuropathologica. 132 (2016) 3 - p. 475-478 , 2016

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

8

A movement disorder with dystonia and ataxia caused by a mu..:

Schottmann, Gudrun ; Sarpong, Akosua ; Lorenz, Carmen...
Movement Disorders. 31 (2016) 11 - p. 1733-1739 , 2016

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

9

Klüver–Bucy syndrome associated with a recessive variant in..:

Hu, Hao ; Hübner, Christoph ; Lukacs, Zoltan...
European Journal of Human Genetics. 25 (2016) 2 - p. 253-256 , 2016

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

10

Clinical application of whole exome sequencing reveals a no..:

Knierim, Ellen ; Seelow, Dominik ; Gill, Esther..
Mitochondrion. 20 (2015) - p. 1-6 , 2015

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

11

Recessive truncatingIGHMBP2mutations presenting as axonal s..:

Schottmann, Gudrun ; Jungbluth, Heinz ; Schara, Ulrike...
Neurology. 84 (2015) 5 - p. 523-531 , 2015

Link: https://doi.org/10.1212/..

12

Autophagic vacuolar myopathy is a common feature of CLN3 di..:

Radke, Josefine ; Koll, Randi ; Gill, Esther...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243389/. , 2018

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

13

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Ac..:

von Renesse, Anja ; Morales-Gonzalez, Susanne ; Gill, Esther...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323020/. , 2018

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

14

Klüver–Bucy syndrome associated with a recessive variant in..:

Hu, Hao ; Hübner, Christoph ; Lukacs, Zoltan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255949/. , 2017

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

15

Characterization of a Dmd EGFP reporter mouse as a tool to ..:

Petkova, Mina ; Morales-Gonzales, Susanne ; Relizani, Karima...
http://www.skeletalmusclejournal.com/content/6/1/25. , 2016

Link: http://www.skeletalmuscl..