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Joseph G Gleeson

Showing results (271-280 of 325) with videos related to

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Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
Pageof 33

Showing results (271-280 of 325) with videos related to

Sort By:
Pageof 33
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
Pageof 33