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Joseph G Gleeson

Showing results (181-190 of 325) with videos related to

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Nature Genetics|June 29, 2022
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.
Cell Stem Cell|November 4, 2025
A phenotypic brain organoid atlas and biobank for neurodevelopmental disordersLu Wang, Yuji Nakamura, Junhao Li, et al.
Nature Genetics|June 2, 2022
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
American Journal of Human Genetics|July 26, 2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalyHongda Li, Stephanie L Bielas, Maha S Zaki, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.
Nature|April 1, 2026
Developmental organization of sensory and sympathetic gangliaKeng Ioi Vong, Yanina D Alvarez, Qingquan Zhang, et al.
Pageof 33

Showing results (181-190 of 325) with videos related to

Sort By:
Pageof 33
Nature Genetics|June 29, 2022
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.
Cell Stem Cell|November 4, 2025
A phenotypic brain organoid atlas and biobank for neurodevelopmental disordersLu Wang, Yuji Nakamura, Junhao Li, et al.
Nature Genetics|June 2, 2022
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
American Journal of Human Genetics|July 26, 2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalyHongda Li, Stephanie L Bielas, Maha S Zaki, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.
Nature|April 1, 2026
Developmental organization of sensory and sympathetic gangliaKeng Ioi Vong, Yanina D Alvarez, Qingquan Zhang, et al.
Pageof 33