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Kathrin Grundmann

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

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Neurobiology of Disease|April 5, 2012
Generation of a novel rodent model for DYT1 dystoniaKathrin Grundmann, Nicola Glöckle, Giuseppina Martella, et al.
Human Mutation|June 17, 2014
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AJasmin Hettich, Scott D Ryan, Osmar Norberto de Souza, et al.
Brain : a Journal of Neurology|January 11, 2022
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 familyFubo Cheng, Wenxu Zheng, Peter Antony Barbuti, et al.
Breast Cancer Research and Treatment|May 30, 2015
HBOC multi-gene panel testing: comparison of two sequencing centersChristopher Schroeder, Ulrike Faust, Marc Sturm, et al.
American Journal of Medical Genetics. Part A|December 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
The Journal of Clinical Investigation|October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathyNatalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 4

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

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 40 results.
Neurobiology of Disease|April 5, 2012
Generation of a novel rodent model for DYT1 dystoniaKathrin Grundmann, Nicola Glöckle, Giuseppina Martella, et al.
Human Mutation|June 17, 2014
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AJasmin Hettich, Scott D Ryan, Osmar Norberto de Souza, et al.
Brain : a Journal of Neurology|January 11, 2022
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 familyFubo Cheng, Wenxu Zheng, Peter Antony Barbuti, et al.
Breast Cancer Research and Treatment|May 30, 2015
HBOC multi-gene panel testing: comparison of two sequencing centersChristopher Schroeder, Ulrike Faust, Marc Sturm, et al.
American Journal of Medical Genetics. Part A|December 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
The Journal of Clinical Investigation|October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathyNatalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
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