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Zacher

Showing results (551-560 of 576) with videos related to

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Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
Biorxiv : the Preprint Server for Biology|November 22, 2024
DNA repair and anti-cancer mechanisms in the long-lived bowhead whaleDenis Firsanov, Max Zacher, Xiao Tian, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|April 12, 2024
Excess mortality in Europe coincides with peaks of COVID-19, influenza and respiratory syncytial virus (RSV), November 2023 to February 2024Sarah K Nørgaard, Jens Nielsen, Anne Christine Nordholm, et al.
Nature Communications|January 15, 2026
Excess mortality in Europe estimated by EuroMOMO during the COVID-19 pandemic and previous influenza seasonsSarah K Nørgaard, Jens Nielsen, Christel B Schjørring, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Nature|October 30, 2025
Evidence for improved DNA repair in the long-lived bowhead whaleDenis Firsanov, Max Zacher, Xiao Tian, et al.
European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 58

Showing results (551-560 of 576) with videos related to

Sort By:
Pageof 58
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
Biorxiv : the Preprint Server for Biology|November 22, 2024
DNA repair and anti-cancer mechanisms in the long-lived bowhead whaleDenis Firsanov, Max Zacher, Xiao Tian, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|April 12, 2024
Excess mortality in Europe coincides with peaks of COVID-19, influenza and respiratory syncytial virus (RSV), November 2023 to February 2024Sarah K Nørgaard, Jens Nielsen, Anne Christine Nordholm, et al.
Nature Communications|January 15, 2026
Excess mortality in Europe estimated by EuroMOMO during the COVID-19 pandemic and previous influenza seasonsSarah K Nørgaard, Jens Nielsen, Christel B Schjørring, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Nature|October 30, 2025
Evidence for improved DNA repair in the long-lived bowhead whaleDenis Firsanov, Max Zacher, Xiao Tian, et al.
European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 58