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Showing results (281-290 of 353) with videos related to

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Plos One|March 9, 2018
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasmsAnne T Berg, Samya Chakravorty, Sookyong Koh, et al.
Journal of Neuropathology and Experimental Neurology|September 11, 2016
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age SpectrumHannah C Kinney, Annapurna H Poduri, Jane B Cryan, et al.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.
Brain : a Journal of Neurology|June 25, 2020
Modelling and treating GRIN2A developmental and epileptic encephalopathy in miceAriadna Amador, Christopher D Bostick, Heather Olson, et al.
JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.
Brain : a Journal of Neurology|September 11, 2019
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathyWenshu XiangWei, Varun Kannan, Yuchen Xu, et al.
Pageof 36

Showing results (281-290 of 353) with videos related to

Sort By:
Pageof 36
Plos One|March 9, 2018
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasmsAnne T Berg, Samya Chakravorty, Sookyong Koh, et al.
Journal of Neuropathology and Experimental Neurology|September 11, 2016
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age SpectrumHannah C Kinney, Annapurna H Poduri, Jane B Cryan, et al.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationTojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.
Brain : a Journal of Neurology|June 25, 2020
Modelling and treating GRIN2A developmental and epileptic encephalopathy in miceAriadna Amador, Christopher D Bostick, Heather Olson, et al.
JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.
Brain : a Journal of Neurology|September 11, 2019
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathyWenshu XiangWei, Varun Kannan, Yuchen Xu, et al.
Pageof 36