E-LIB Suche - Ergebnisse für: Baumann, Hauke

1

POLG2-Linked Mitochondrial Disease: Functional Insights fro..:

Borsche, Max ; Dulovic-Mahlow, Marija ; Baumann, Hauke...
The Cerebellum. 23 (2023) 2 - p. 479-488 , 2023

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

2

Identification and characterization of novel genetic causes..:

Baumann, Hauke , 2021

Link: https://nbn-resolving.de..

3

Linking Penetrance and Transcription in DYT‐THAP1: Insights..:

Baumann, Hauke ; Ott, Fabian ; Weber, Joachim...
Movement Disorders. 36 (2021) 6 - p. 1381-1391 , 2021

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

4

Reduced Expression of GABAA Receptor Alpha2 Subunit Is Asso..:

Staege, Selma ; Kutschenko, Anna ; Baumann, Hauke...
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

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

5

Genotype–Phenotype Relations for Isolated Dystonia Genes: M..:

Lange, Lara M. ; Junker, Johanna ; Loens, Sebastian...
Movement Disorders. 36 (2021) 5 - p. 1086-1103 , 2021

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

6

Altered homodimer formation and increased iron accumulation..:

Baumann, Hauke ; Tunc, Sinem ; Günther, Albrecht...
Parkinsonism & Related Disorders. 80 (2020) - p. 41-46 , 2020

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

7

Highly reduced penetrance in a family with a THAP1 nonsense..:

Dulovic-Mahlow, Marija ; Gajos, Agata ; Baumann, Hauke...
Parkinsonism & Related Disorders. 65 (2019) - p. 274-276 , 2019

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

8

Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Cha..:

Tunc, Sinem ; Dulovic-Mahlow, Marija ; Baumann, Hauke...
The Cerebellum. 18 (2019) 4 - p. 817-822 , 2019

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

9

De-novo KMT2B mutation in a consanguineous family: 15-Year ..:

Klein, Christine ; Baumann, Hauke ; Olschewski, Luisa...
Parkinsonism & Related Disorders. 64 (2019) - p. 337-339 , 2019

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

10

Generation and characterization of eight human-derived iPSC..:

Baumann, Hauke ; Jahn, Magdalena ; Muenchau, Alexander...
Stem Cell Research. 33 (2018) - p. 60-64 , 2018

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

11

Utility and implications of exome sequencing in early‐onset..:

Trinh, Joanne ; Lohmann, Katja ; Baumann, Hauke...
Movement Disorders. 34 (2018) 1 - p. 133-137 , 2018

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

12

NovelGNB1mutations disrupt assembly and function of G prote..:

Lohmann, Katja ; Masuho, Ikuo ; Patil, Dipak N....
Human Molecular Genetics. , 2017

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

13

Evaluating the role of TMEM230 variants in Parkinson's dise..:

Baumann, Hauke ; Wolff, Simone ; Münchau, Alexander...
Parkinsonism & Related Disorders. 35 (2017) - p. 100-101 , 2017

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

14

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Ass..:

Staege, Selma ; Kutschenko, Anna ; Seibler, Philip...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34095114. , 2021

Link: https://pub.dzne.de/reco..

15

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorder:

Dulovic-Mahlow, Marija ; Trinh, Joanne ; Kandaswamy, Krishna Kumar...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612514/. , 2019

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