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Lisa Pavinato

Showing results (21-30 of 26) with videos related to

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Genome Medicine|February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Cell Reports|March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.
Research Square|January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisMansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorderNour Elkhateeb, Renarta Crookes, Michael Spiller, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Genome Medicine|February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Cell Reports|March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.
Research Square|January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisMansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorderNour Elkhateeb, Renarta Crookes, Michael Spiller, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
Pageof 3