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Joseph G Gleeson

Showing results (201-210 of 325) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
Cell|December 3, 2016
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum DisorderDora C Tărlungeanu, Elena Deliu, Christoph P Dotter, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
Annals of Clinical and Translational Neurology|May 14, 2025
HPDL Variant Type Correlates With Clinical Disease Onset and SeverityEun Hye Lee, Olivia Kim-Mcmanus, Jennifer H Yang, et al.
The EMBO Journal|July 27, 2014
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disordersSandra Blanco, Sabine Dietmann, Joana V Flores, et al.
Human Molecular Genetics|September 20, 2015
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndromeUirá S Melo, Lucia I Macedo-Souza, Thalita Figueiredo, et al.
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Pageof 33

Showing results (201-210 of 325) with videos related to

Sort By:
Pageof 33
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.
Cell|December 3, 2016
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum DisorderDora C Tărlungeanu, Elena Deliu, Christoph P Dotter, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
Annals of Clinical and Translational Neurology|May 14, 2025
HPDL Variant Type Correlates With Clinical Disease Onset and SeverityEun Hye Lee, Olivia Kim-Mcmanus, Jennifer H Yang, et al.
The EMBO Journal|July 27, 2014
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disordersSandra Blanco, Sabine Dietmann, Joana V Flores, et al.
Human Molecular Genetics|September 20, 2015
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndromeUirá S Melo, Lucia I Macedo-Souza, Thalita Figueiredo, et al.
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Pageof 33