Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Patrick Shannon

Showing results (91-100 of 100) with videos related to

Pageof 10
Sort By:
You have reached the last page of results.This site can display upto 100 results.
Human Molecular Genetics|May 2, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionMarie Alice Dupont, Camille Humbert, Céline Huber, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Science (New York, N.Y.)|July 10, 2021
Mapping the cellular origin and early evolution of leukemia in Down syndromeElvin Wagenblast, Joana Araújo, Olga I Gan, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Pageof 10

Showing results (91-100 of 100) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 100 results.
Human Molecular Genetics|May 2, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionMarie Alice Dupont, Camille Humbert, Céline Huber, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
Science (New York, N.Y.)|July 10, 2021
Mapping the cellular origin and early evolution of leukemia in Down syndromeElvin Wagenblast, Joana Araújo, Olga I Gan, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Pageof 10