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Emily Tuttle

Showing results (1-10 of 8) with videos related to

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BMC Research Notes|December 2, 2014
Comparison of insertion/deletion calling algorithms on human next-generation sequencing dataDalia H Ghoneim, Jason R Myers, Emily Tuttle, et al.
American Journal of Medical Genetics. Part A|May 3, 2017
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literatureKaylee Park, Laurie E Seltzer, Emily Tuttle, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphologyChristoph Pröschel, Jeanne N Hansen, Adil Ali, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformationAlex R Paciorkowski, Judy Weisenberg, Joshua B Kelley, et al.
American Journal of Human Genetics|April 8, 2014
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsyThomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, et al.
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.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
BMC Research Notes|December 2, 2014
Comparison of insertion/deletion calling algorithms on human next-generation sequencing dataDalia H Ghoneim, Jason R Myers, Emily Tuttle, et al.
American Journal of Medical Genetics. Part A|May 3, 2017
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literatureKaylee Park, Laurie E Seltzer, Emily Tuttle, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphologyChristoph Pröschel, Jeanne N Hansen, Adil Ali, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformationAlex R Paciorkowski, Judy Weisenberg, Joshua B Kelley, et al.
American Journal of Human Genetics|April 8, 2014
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsyThomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, et al.
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.
American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
Pageof 1