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Joseph G Gleeson

Showing results (171-180 of 325) with videos related to

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Cell|August 13, 2021
Developmental and temporal characteristics of clonal sperm mosaicismXiaoxu Yang, Martin W Breuss, Xin Xu, et al.
Epilepsia Open|March 7, 2020
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephalyCamila A B Garcia, Simone C S Carvalho, Xiaoxu Yang, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.
American Journal of Human Genetics|March 26, 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in HumansRanad Shaheen, Nan Jiang, Fatema Alzahrani, et al.
Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.
Clinical Genetics|April 14, 2023
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLSMaha S Zaki, Wessam E Sharaf-Eldin, Karima Rafat, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
Neuron|February 5, 2019
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural ProgenitorsHongda Li, Laura Saucedo-Cuevas, Ling Yuan, et al.
Cell Reports|April 13, 2022
A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunityJose Angel Regla-Nava, Ying-Ting Wang, Camila R Fontes-Garfias, et al.
Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.
Pageof 33

Showing results (171-180 of 325) with videos related to

Sort By:
Pageof 33
Cell|August 13, 2021
Developmental and temporal characteristics of clonal sperm mosaicismXiaoxu Yang, Martin W Breuss, Xin Xu, et al.
Epilepsia Open|March 7, 2020
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephalyCamila A B Garcia, Simone C S Carvalho, Xiaoxu Yang, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.
American Journal of Human Genetics|March 26, 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in HumansRanad Shaheen, Nan Jiang, Fatema Alzahrani, et al.
Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.
Clinical Genetics|April 14, 2023
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLSMaha S Zaki, Wessam E Sharaf-Eldin, Karima Rafat, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
Neuron|February 5, 2019
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural ProgenitorsHongda Li, Laura Saucedo-Cuevas, Ling Yuan, et al.
Cell Reports|April 13, 2022
A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunityJose Angel Regla-Nava, Ying-Ting Wang, Camila R Fontes-Garfias, et al.
Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.
Pageof 33