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Christopher A Walsh

Showing results (131-140 of 337) with videos related to

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American Journal of Medical Genetics. Part A|August 5, 2015
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephalyJaime Imitola, Divya S Khurana, Nadiya M Teplyuk, et al.
Clinical Genetics|April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delayAlisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.
Biorxiv : the Preprint Server for Biology|October 17, 2024
Perinatal Reduction of Genetically Aberrant Neurons from Human Cerebral CortexDiane D Shao, Yifan Zhao, Urmi Ghosh, et al.
Nature Biotechnology|January 8, 2020
Accurate detection of mosaic variants in sequencing data without matched controlsYanmei Dou, Minseok Kwon, Rachel E Rodin, et al.
American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 8, 2006
The role of RELN in lissencephaly and neuropsychiatric diseaseBernard S Chang, Fusun Duzcan, Seonhee Kim, et al.
Molecular Cell|August 4, 2012
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteinsJudy S Liu, Christian R Schubert, Xiaoqin Fu, et al.
Annals of Neurology|September 22, 2020
Polymicrogyria is Associated With Pathogenic Variants in PTENDiane D Shao, Christelle M Achkar, Abbe Lai, et al.
Journal of the American Heart Association|July 3, 2024
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic IndividualsMing Hui Chen, Ellen S Deng, Jessica M Yamada, et al.
Nature Structural Biology|April 15, 2003
The DCX-domain tandems of doublecortin and doublecortin-like kinaseMyung Hee Kim, Tomasz Cierpicki, Urszula Derewenda, et al.
Pageof 34

Showing results (131-140 of 337) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|August 5, 2015
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephalyJaime Imitola, Divya S Khurana, Nadiya M Teplyuk, et al.
Clinical Genetics|April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delayAlisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.
Biorxiv : the Preprint Server for Biology|October 17, 2024
Perinatal Reduction of Genetically Aberrant Neurons from Human Cerebral CortexDiane D Shao, Yifan Zhao, Urmi Ghosh, et al.
Nature Biotechnology|January 8, 2020
Accurate detection of mosaic variants in sequencing data without matched controlsYanmei Dou, Minseok Kwon, Rachel E Rodin, et al.
American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 8, 2006
The role of RELN in lissencephaly and neuropsychiatric diseaseBernard S Chang, Fusun Duzcan, Seonhee Kim, et al.
Molecular Cell|August 4, 2012
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteinsJudy S Liu, Christian R Schubert, Xiaoqin Fu, et al.
Annals of Neurology|September 22, 2020
Polymicrogyria is Associated With Pathogenic Variants in PTENDiane D Shao, Christelle M Achkar, Abbe Lai, et al.
Journal of the American Heart Association|July 3, 2024
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic IndividualsMing Hui Chen, Ellen S Deng, Jessica M Yamada, et al.
Nature Structural Biology|April 15, 2003
The DCX-domain tandems of doublecortin and doublecortin-like kinaseMyung Hee Kim, Tomasz Cierpicki, Urszula Derewenda, et al.
Pageof 34