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Katja Lohmann

Showing results (31-40 of 267) with videos related to

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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in <i>THAP1</i>-linked dystonia as an exampleSokhna Haissatou Diaw, Fabian Ott, Alexander Münchau, et al.
Journal of Neurology|March 22, 2017
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxiaVera Tadic, Christine Klein, Frauke Hinrichs, et al.
Neurology|January 15, 2016
A nonsense mutation in CHCHD2 in a patient with Parkinson diseaseEva Koschmidder, Anne Weissbach, Norbert Brüggemann, et al.
Scientific Reports|September 1, 2017
Winter amplification of the European Little Ice Age cooling by the subpolar gyreEduardo Moreno-Chamarro, Davide Zanchettin, Katja Lohmann, et al.
Parkinsonism & Related Disorders|July 1, 2019
The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutationsMax Borsche, Alexander Balck, Meike Kasten, et al.
Parkinsonism & Related Disorders|September 19, 2020
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literatureHauke Baumann, Sinem Tunc, Albrecht Günther, et al.
Parkinsonism & Related Disorders|April 5, 2021
Involuntary moaning in a Hispanic family with eight affected membersMaria Gisatulin, Malco Rossi, Claudia Perandones, et al.
The Lancet. Neurology|June 22, 2007
Deciphering the role of heterozygous mutations in genes associated with parkinsonismChristine Klein, Katja Lohmann-Hedrich, Ekaterina Rogaeva, et al.
Journal of Human Genetics|July 21, 2017
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic featuresJoanne Trinh, Irina Hüning, Nadja Budler, et al.
Movement Disorders Clinical Practice|May 7, 2020
Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell TransplantationTina Mainka, Saskia Biskup, Andrea A Kühn, et al.
Pageof 27

Showing results (31-40 of 267) with videos related to

Sort By:
Pageof 27
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in <i>THAP1</i>-linked dystonia as an exampleSokhna Haissatou Diaw, Fabian Ott, Alexander Münchau, et al.
Journal of Neurology|March 22, 2017
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxiaVera Tadic, Christine Klein, Frauke Hinrichs, et al.
Neurology|January 15, 2016
A nonsense mutation in CHCHD2 in a patient with Parkinson diseaseEva Koschmidder, Anne Weissbach, Norbert Brüggemann, et al.
Scientific Reports|September 1, 2017
Winter amplification of the European Little Ice Age cooling by the subpolar gyreEduardo Moreno-Chamarro, Davide Zanchettin, Katja Lohmann, et al.
Parkinsonism & Related Disorders|July 1, 2019
The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutationsMax Borsche, Alexander Balck, Meike Kasten, et al.
Parkinsonism & Related Disorders|September 19, 2020
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literatureHauke Baumann, Sinem Tunc, Albrecht Günther, et al.
Parkinsonism & Related Disorders|April 5, 2021
Involuntary moaning in a Hispanic family with eight affected membersMaria Gisatulin, Malco Rossi, Claudia Perandones, et al.
The Lancet. Neurology|June 22, 2007
Deciphering the role of heterozygous mutations in genes associated with parkinsonismChristine Klein, Katja Lohmann-Hedrich, Ekaterina Rogaeva, et al.
Journal of Human Genetics|July 21, 2017
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic featuresJoanne Trinh, Irina Hüning, Nadja Budler, et al.
Movement Disorders Clinical Practice|May 7, 2020
Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell TransplantationTina Mainka, Saskia Biskup, Andrea A Kühn, et al.
Pageof 27