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Joseph G Gleeson

Showing results (241-250 of 325) with videos related to

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European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.
Science Translational Medicine|June 16, 2012
Exome sequencing can improve diagnosis and alter patient managementTracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Scientific Data|November 20, 2023
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseasesMcKinzie A Garrison, Yeongjun Jang, Taejeong Bae, et al.
Cerebellum (London, England)|April 15, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National StudyDilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, et al.
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Pageof 33

Showing results (241-250 of 325) with videos related to

Sort By:
Pageof 33
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.
Science Translational Medicine|June 16, 2012
Exome sequencing can improve diagnosis and alter patient managementTracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Scientific Data|November 20, 2023
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseasesMcKinzie A Garrison, Yeongjun Jang, Taejeong Bae, et al.
Cerebellum (London, England)|April 15, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National StudyDilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, et al.
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Pageof 33