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Vincent Michaud

Showing results (81-90 of 84) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, 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.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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Showing results (81-90 of 84) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 84 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, 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.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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