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Chiara Leoni

Showing results (141-150 of 146) with videos related to

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American Journal of Medical Genetics. Part A|November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyElizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
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Showing results (141-150 of 146) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 146 results.
American Journal of Medical Genetics. Part A|November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyElizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
Pageof 15