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

Joseph G Gleeson

Showing results (91-100 of 325) with videos related to

Pageof 33
Sort By:
Neuron|June 20, 2014
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulationSeung Tae Baek, Geraldine Kerjan, Stephanie L Bielas, et al.
Journal of Human Genetics|March 26, 2022
Biallelic BICD2 variant is a novel candidate for Cohen-like syndromeAhmet Okay Caglayan, Beyhan Tuysuz, Ece Gül, et al.
Birth Defects Research|September 27, 2025
Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina BifidaMadison Strain, Melanie E Garrett, Max Bucklan, et al.
Metabolic Brain Disease|September 18, 2014
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delaySalma Ben-Salem, Joseph G Gleeson, Aisha M Al-Shamsi, et al.
Science Translational Medicine|January 1, 2025
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for <i>Mboat7</i> in mTOR-dependent neuronal migrationIsaac Tang, Ashna Nisal, Alex Reed, et al.
Nature Medicine|September 1, 2009
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, et al.
Human Genetics|June 2, 2016
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndromeSusanne Roosing, Rasim O Rosti, Basak Rosti, et al.
European Journal of Medical Genetics|October 26, 2010
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosumAlice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, et al.
Genome Biology|August 31, 2013
Virmid: accurate detection of somatic mutations with sample impurity inferenceSangwoo Kim, Kyowon Jeong, Kunal Bhutani, et al.
Human Molecular Genetics|September 11, 2008
Association of common variants in the Joubert syndrome gene (AHI1) with autismAna I Alvarez Retuerto, Rita M Cantor, Joseph G Gleeson, et al.
Pageof 33

Showing results (91-100 of 325) with videos related to

Sort By:
Pageof 33
Neuron|June 20, 2014
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulationSeung Tae Baek, Geraldine Kerjan, Stephanie L Bielas, et al.
Journal of Human Genetics|March 26, 2022
Biallelic BICD2 variant is a novel candidate for Cohen-like syndromeAhmet Okay Caglayan, Beyhan Tuysuz, Ece Gül, et al.
Birth Defects Research|September 27, 2025
Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina BifidaMadison Strain, Melanie E Garrett, Max Bucklan, et al.
Metabolic Brain Disease|September 18, 2014
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delaySalma Ben-Salem, Joseph G Gleeson, Aisha M Al-Shamsi, et al.
Science Translational Medicine|January 1, 2025
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for <i>Mboat7</i> in mTOR-dependent neuronal migrationIsaac Tang, Ashna Nisal, Alex Reed, et al.
Nature Medicine|September 1, 2009
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, et al.
Human Genetics|June 2, 2016
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndromeSusanne Roosing, Rasim O Rosti, Basak Rosti, et al.
European Journal of Medical Genetics|October 26, 2010
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosumAlice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, et al.
Genome Biology|August 31, 2013
Virmid: accurate detection of somatic mutations with sample impurity inferenceSangwoo Kim, Kyowon Jeong, Kunal Bhutani, et al.
Human Molecular Genetics|September 11, 2008
Association of common variants in the Joubert syndrome gene (AHI1) with autismAna I Alvarez Retuerto, Rita M Cantor, Joseph G Gleeson, et al.
Pageof 33