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Michael T Zimmermann

Showing results (41-50 of 146) with videos related to

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AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science|August 26, 2015
A Semantic Web-based System for Mining Genetic Mutations in Cancer Clinical TrialsSambhawa Priya, Guoqian Jiang, Surendra Dasari, et al.
Heartrhythm Case Reports|June 8, 2018
Even pore-localizing missense variants at highly conserved sites in <i>KCNQ1</i>-encoded K<sub>v</sub>7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretationAshley Paquin, Dan Ye, David J Tester, et al.
Human Genetics|May 29, 2016
De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathyPamela A Long, Michael T Zimmermann, Maengjo Kim, et al.
Transplantation Reports|May 14, 2026
Advancing Deep Variant Phenotyping of Mitochondrial Enzyme Complexes For Precision Medicine in Allogeneic Hematopoietic Stem-Cell TransplantationJing Dong, Michael T Zimmermann, Neshatul Haque, et al.
Nature|February 26, 2011
Crystal structure of the CusBA heavy-metal efflux complex of Escherichia coliChih-Chia Su, Feng Long, Michael T Zimmermann, et al.
Iscience|October 19, 2023
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulationNeshatul Haque, Tomoki Kawai, Brian D Ratnasinghe, et al.
Mayo Clinic Proceedings|August 11, 2018
A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro AmyloidosisMeera Sridharan, W Edward Highsmith, Paul J Kurtin, et al.
Plos One|February 7, 2020
Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domainAngela Mathison, Thiago Milech De Assuncao, Nikita R Dsouza, et al.
Cold Spring Harbor Molecular Case Studies|October 1, 2017
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeCharu Kaiwar, Michael T Zimmermann, Matthew J Ferber, et al.
International Journal of Cancer|December 6, 2018
Genetic variations in human papillomavirus and cervical cancer outcomesJanet S Rader, Shirng-Wern Tsaih, Daniel Fullin, et al.
Pageof 15

Showing results (41-50 of 146) with videos related to

Sort By:
Pageof 15
AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science|August 26, 2015
A Semantic Web-based System for Mining Genetic Mutations in Cancer Clinical TrialsSambhawa Priya, Guoqian Jiang, Surendra Dasari, et al.
Heartrhythm Case Reports|June 8, 2018
Even pore-localizing missense variants at highly conserved sites in <i>KCNQ1</i>-encoded K<sub>v</sub>7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretationAshley Paquin, Dan Ye, David J Tester, et al.
Human Genetics|May 29, 2016
De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathyPamela A Long, Michael T Zimmermann, Maengjo Kim, et al.
Transplantation Reports|May 14, 2026
Advancing Deep Variant Phenotyping of Mitochondrial Enzyme Complexes For Precision Medicine in Allogeneic Hematopoietic Stem-Cell TransplantationJing Dong, Michael T Zimmermann, Neshatul Haque, et al.
Nature|February 26, 2011
Crystal structure of the CusBA heavy-metal efflux complex of Escherichia coliChih-Chia Su, Feng Long, Michael T Zimmermann, et al.
Iscience|October 19, 2023
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulationNeshatul Haque, Tomoki Kawai, Brian D Ratnasinghe, et al.
Mayo Clinic Proceedings|August 11, 2018
A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro AmyloidosisMeera Sridharan, W Edward Highsmith, Paul J Kurtin, et al.
Plos One|February 7, 2020
Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domainAngela Mathison, Thiago Milech De Assuncao, Nikita R Dsouza, et al.
Cold Spring Harbor Molecular Case Studies|October 1, 2017
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeCharu Kaiwar, Michael T Zimmermann, Matthew J Ferber, et al.
International Journal of Cancer|December 6, 2018
Genetic variations in human papillomavirus and cervical cancer outcomesJanet S Rader, Shirng-Wern Tsaih, Daniel Fullin, et al.
Pageof 15