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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 individuals
Quentin 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 disability
Audrey 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 condition
Elizabeth 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 disruption
Caroline Nava, Benjamin Cogne, Amandine Santini, et al.
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Search research articles
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Showing results (81-90 of 84) with videos related to
Sort By:
Page
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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 individuals
Quentin 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 disability
Audrey 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 condition
Elizabeth 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 disruption
Caroline Nava, Benjamin Cogne, Amandine Santini, et al.
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of 9