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Susen Schaake

Showing results (1-10 of 36) with videos related to

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Frontiers in Genetics|June 6, 2022
Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNATheresa Lüth, Susen Schaake, Anne Grünewald, et al.
Human Molecular Genetics|May 10, 2017
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expressionRonja Hollstein, Benedikt Reiz, Lucas Kötter, et al.
Parkinsonism & Related Disorders|February 5, 2020
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?Julien F Bally, David P Breen, Susen Schaake, et al.
BMC Genomics|June 13, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring mattersCarolin Gabbert, Susen Schaake, Theresa Lüth, et al.
Journal of Neurology|April 1, 2015
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystoniaEsther Nibbeling, Susen Schaake, Marina A Tijssen, et al.
BMC Genomics|October 18, 2024
Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cellsJoanne Trinh, Susen Schaake, Carolin Gabbert, et al.
Frontiers in Aging Neuroscience|October 15, 2021
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of ConceptTheresa Lüth, Kobi Wasner, Christine Klein, et al.
Journal of Assisted Reproduction and Genetics|October 12, 2022
Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencingTheresa Lüth, Simon Graspeuntner, Kay Neumann, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
The R1441C-LRRK2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent mannerRebecca Wallings, Karen McFarland, Hannah Staley, et al.
Science Translational Medicine|November 6, 2024
The <i>R1441C-Lrrk2</i> mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in miceRebecca L Wallings, Karen McFarland, Hannah A Staley, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Frontiers in Genetics|June 6, 2022
Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNATheresa Lüth, Susen Schaake, Anne Grünewald, et al.
Human Molecular Genetics|May 10, 2017
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expressionRonja Hollstein, Benedikt Reiz, Lucas Kötter, et al.
Parkinsonism & Related Disorders|February 5, 2020
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?Julien F Bally, David P Breen, Susen Schaake, et al.
BMC Genomics|June 13, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring mattersCarolin Gabbert, Susen Schaake, Theresa Lüth, et al.
Journal of Neurology|April 1, 2015
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystoniaEsther Nibbeling, Susen Schaake, Marina A Tijssen, et al.
BMC Genomics|October 18, 2024
Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cellsJoanne Trinh, Susen Schaake, Carolin Gabbert, et al.
Frontiers in Aging Neuroscience|October 15, 2021
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of ConceptTheresa Lüth, Kobi Wasner, Christine Klein, et al.
Journal of Assisted Reproduction and Genetics|October 12, 2022
Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencingTheresa Lüth, Simon Graspeuntner, Kay Neumann, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
The R1441C-LRRK2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent mannerRebecca Wallings, Karen McFarland, Hannah Staley, et al.
Science Translational Medicine|November 6, 2024
The <i>R1441C-Lrrk2</i> mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in miceRebecca L Wallings, Karen McFarland, Hannah A Staley, et al.
Pageof 4