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Neurogenetics

Showing results (541-550 of 1,081) with videos related to

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Neurogenetics|September 30, 2025
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophyFrancisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, María Martín-Cazaña, et al.
Neurogenetics|October 2, 2025
ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potentialYasmin Yusuf Hussein Dinle, Ruping Liu, Mainak Sengupta, et al.
Neurogenetics|January 12, 2020
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spamsPeiwei Zhao, Xuehua Peng, Sukun Luo, et al.
Neurogenetics|March 31, 2020
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1Jianda Wang, Yanqi Hou, Lina Qi, et al.
Neurogenetics|October 28, 2019
Infectious stress triggers a POLG-related mitochondrial diseasePaula Gaudó, Sonia Emperador, Nuria Garrido-Pérez, et al.
Neurogenetics|September 16, 2016
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2ARony Cohen, Ayelet Halevy, Sharon Aharoni, et al.
Neurogenetics|September 15, 2016
PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.
Neurogenetics|April 13, 2022
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > CMainak Bardhan, Ram Murthy Anjanappa, Kiran Polavarapu, et al.
Neurogenetics|October 2, 2021
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhagesMasaki Ikeda, Koichi Okamoto, Keiji Suzuki, et al.
Neurogenetics|April 23, 2022
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorderAsmat Ullah, Jai Krishin, Nighat Haider, et al.
Pageof 109

Showing results (541-550 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|September 30, 2025
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophyFrancisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, María Martín-Cazaña, et al.
Neurogenetics|October 2, 2025
ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potentialYasmin Yusuf Hussein Dinle, Ruping Liu, Mainak Sengupta, et al.
Neurogenetics|January 12, 2020
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spamsPeiwei Zhao, Xuehua Peng, Sukun Luo, et al.
Neurogenetics|March 31, 2020
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1Jianda Wang, Yanqi Hou, Lina Qi, et al.
Neurogenetics|October 28, 2019
Infectious stress triggers a POLG-related mitochondrial diseasePaula Gaudó, Sonia Emperador, Nuria Garrido-Pérez, et al.
Neurogenetics|September 16, 2016
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2ARony Cohen, Ayelet Halevy, Sharon Aharoni, et al.
Neurogenetics|September 15, 2016
PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.
Neurogenetics|April 13, 2022
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > CMainak Bardhan, Ram Murthy Anjanappa, Kiran Polavarapu, et al.
Neurogenetics|October 2, 2021
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhagesMasaki Ikeda, Koichi Okamoto, Keiji Suzuki, et al.
Neurogenetics|April 23, 2022
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorderAsmat Ullah, Jai Krishin, Nighat Haider, et al.
Pageof 109