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Laura A Jansen

Showing results (21-30 of 26) with videos related to

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American Journal of Human Genetics|April 4, 2015
De novo mutations in SIK1 cause a spectrum of developmental epilepsiesJeanne Hansen, Chelsi Snow, Emily Tuttle, et al.
Epilepsia|February 7, 2015
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephalyAlex R Paciorkowski, Sharon S McDaniel, Laura A Jansen, et al.
Brain : a Journal of Neurology|February 28, 2015
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaLaura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, et al.
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
The Journal of Clinical Investigation|June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsyUdo Fh Engelke, Rianne E van Outersterp, Jona Merx, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
American Journal of Human Genetics|April 4, 2015
De novo mutations in SIK1 cause a spectrum of developmental epilepsiesJeanne Hansen, Chelsi Snow, Emily Tuttle, et al.
Epilepsia|February 7, 2015
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephalyAlex R Paciorkowski, Sharon S McDaniel, Laura A Jansen, et al.
Brain : a Journal of Neurology|February 28, 2015
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaLaura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, et al.
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
The Journal of Clinical Investigation|June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsyUdo Fh Engelke, Rianne E van Outersterp, Jona Merx, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
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