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T Zimmermann

Showing results (461-470 of 469) with videos related to

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Blood|April 20, 2021
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationOttavia M Delmonte, Jenna R E Bergerson, Tomoki Kawai, et al.
Cell Reports|April 5, 2018
Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome AtlasTheo A Knijnenburg, Linghua Wang, Michael T Zimmermann, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Journal of Medical Genetics|December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
Pageof 47

Showing results (461-470 of 469) with videos related to

Sort By:
Pageof 47
You have reached the last page of results.This site can display upto 469 results.
Blood|April 20, 2021
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationOttavia M Delmonte, Jenna R E Bergerson, Tomoki Kawai, et al.
Cell Reports|April 5, 2018
Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome AtlasTheo A Knijnenburg, Linghua Wang, Michael T Zimmermann, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Journal of Medical Genetics|December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
Pageof 47