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Joseph G Gleeson

Showing results (131-140 of 325) with videos related to

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American Journal of Human Genetics|October 7, 2004
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, et al.
Journal of Molecular Neuroscience : MN|October 4, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related DystrophyWessam E Sharaf-Eldin, Karima Rafat, Mahmoud Y Issa, et al.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
Annals of Neurology|May 1, 2016
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thriveMaha S Zaki, Gifty Bhat, Tipu Sultan, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Journal of Medical Genetics|May 23, 2020
Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disabilityArisha Rasheed, Evren Gumus, Maha Zaki, et al.
BMC Medical Genomics|May 15, 2020
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in familiesMahmoud Y Issa, Zinayida Chechlacz, Valentina Stanley, et al.
Nature Medicine|August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorderAlban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
Cell Reports|January 15, 2023
Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathwayYe Eun Kim, Yong-Seok Kim, Hee-Eun Lee, et al.
Nature Communications|November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseasesOlivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.
Pageof 33

Showing results (131-140 of 325) with videos related to

Sort By:
Pageof 33
American Journal of Human Genetics|October 7, 2004
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, et al.
Journal of Molecular Neuroscience : MN|October 4, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related DystrophyWessam E Sharaf-Eldin, Karima Rafat, Mahmoud Y Issa, et al.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
Annals of Neurology|May 1, 2016
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thriveMaha S Zaki, Gifty Bhat, Tipu Sultan, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Journal of Medical Genetics|May 23, 2020
Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disabilityArisha Rasheed, Evren Gumus, Maha Zaki, et al.
BMC Medical Genomics|May 15, 2020
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in familiesMahmoud Y Issa, Zinayida Chechlacz, Valentina Stanley, et al.
Nature Medicine|August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorderAlban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
Cell Reports|January 15, 2023
Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathwayYe Eun Kim, Yong-Seok Kim, Hee-Eun Lee, et al.
Nature Communications|November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseasesOlivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.
Pageof 33