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Jennifer M Gass

Showing results (11-20 of 17) with videos related to

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Clinical Case Reports|January 30, 2018
Co-occurrence of a novel <i>PDGFRB</i> variant and likely pathogenic variant in <i>CASR</i> in an individual with extensive intracranial calcifications and hypocalcaemiaNatasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.
Archives of Neurology|January 11, 2007
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 familiesMarsel Mesulam, Nancy Johnson, Thomas A Krefft, et al.
BMC Medical Genetics|December 7, 2016
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor ticsPatrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
American Journal of Human Genetics|April 3, 2018
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos SyndromePatrick R Blackburn, Zhi Xu, Kathleen E Tumelty, et al.
Plos Genetics|September 20, 2008
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisNicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Clinical Case Reports|January 30, 2018
Co-occurrence of a novel <i>PDGFRB</i> variant and likely pathogenic variant in <i>CASR</i> in an individual with extensive intracranial calcifications and hypocalcaemiaNatasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.
Archives of Neurology|January 11, 2007
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 familiesMarsel Mesulam, Nancy Johnson, Thomas A Krefft, et al.
BMC Medical Genetics|December 7, 2016
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor ticsPatrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, et al.
Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.
American Journal of Human Genetics|April 3, 2018
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos SyndromePatrick R Blackburn, Zhi Xu, Kathleen E Tumelty, et al.
Plos Genetics|September 20, 2008
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisNicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
Pageof 2