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Mark Pierson

Showing results (31-40 of 54) with videos related to

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Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Cellular and Molecular Life Sciences : CMLS|March 31, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel openingLingling Xie, Miranda J McDaniel, Riley E Perszyk, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel pathogenic <i>COX20</i> variants causing dysarthria, ataxia, and sensory neuropathyMaria G Otero, Emmanuelle Tiongson, Frank Diaz, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Plos Genetics|October 25, 2011
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesTyler Mark Pierson, David Adams, Florian Bonn, et al.
Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Cellular and Molecular Life Sciences : CMLS|March 31, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel openingLingling Xie, Miranda J McDaniel, Riley E Perszyk, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Novel pathogenic <i>COX20</i> variants causing dysarthria, ataxia, and sensory neuropathyMaria G Otero, Emmanuelle Tiongson, Frank Diaz, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Plos Genetics|October 25, 2011
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesTyler Mark Pierson, David Adams, Florian Bonn, et al.
Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.
Pageof 6