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Marion Rosello

Showing results (11-20 of 14) with videos related to

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Nature Communications|November 5, 2022
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expressionPanagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, et al.
The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
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Showing results (11-20 of 14) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 14 results.
Nature Communications|November 5, 2022
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expressionPanagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, et al.
The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
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