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Showing results (301-310 of 347) with videos related to

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Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
The Journal of Clinical Investigation|June 16, 2026
Elevated mitochondrial protein import in acute myeloid leukemia increases reliance on mitochondrial protease LONP1Matthew Tcheng, Veronique Voisin, Geethu Emily Thomas, et al.
Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.
Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 29, 2025
Serine phosphorylation facilitates protein degradation by the human mitochondrial ClpXP proteaseYue Feng, Monica M Goncalves, Yulia Jitkova, et al.
American Journal of Medical Genetics. Part A|May 25, 2019
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic featuresElliot S Stolerman, Elizabeth Francisco, Jennifer L Stallworth, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Pageof 35

Showing results (301-310 of 347) with videos related to

Sort By:
Pageof 35
Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
The Journal of Clinical Investigation|June 16, 2026
Elevated mitochondrial protein import in acute myeloid leukemia increases reliance on mitochondrial protease LONP1Matthew Tcheng, Veronique Voisin, Geethu Emily Thomas, et al.
Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.
Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 29, 2025
Serine phosphorylation facilitates protein degradation by the human mitochondrial ClpXP proteaseYue Feng, Monica M Goncalves, Yulia Jitkova, et al.
American Journal of Medical Genetics. Part A|May 25, 2019
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic featuresElliot S Stolerman, Elizabeth Francisco, Jennifer L Stallworth, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Pageof 35