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Joseph G Gleeson

Showing results (311-320 of 325) with videos related to

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American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
Pageof 33

Showing results (311-320 of 325) with videos related to

Sort By:
Pageof 33
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
Nature Cell Biology|July 14, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesGabrielle Wheway, Miriam Schmidts, Dorus A Mans, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
Pageof 33