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Jay Ellison

Showing results (11-20 of 18) with videos related to

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Human Genetics|March 25, 2009
Novel human pathological mutations. Gene symbol: SLC34A2. Disease: pulmonary alveolar microlithiasisJay Ellison
Human Genetics|January 29, 2010
Novel human pathological mutations. Gene symbol: PTEN. Disease: PTEN Hamartoma Tumour SyndromeJay Ellison, David Driscoll
Human Genetics|April 14, 2011
Novel human pathological mutations. Gene symbol: ACVRL1. Disease: haemorrhagic telangiectasia 2Jay Ellison, Neeraj Kumar
Human Genetics|March 25, 2009
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemicJay Ellison, Peter Tebben
American Journal of Ophthalmology|February 5, 2008
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6Elias I Traboulsi, Jay Ellison, Jonathan Sears, et al.
JIMD Reports|February 23, 2013
A Non-classical Presentation of Tangier Disease with Three ABCA1 MutationsMuhammad Ali Pervaiz, Gerald Gau, Allan S Jaffe, et al.
Molecular Genetics and Metabolism|June 16, 2010
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningJaffar Alfardan, Al-Walid Mohsen, Sara Copeland, et al.
Archives of Neurology|September 14, 2011
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein geneNeeraj Kumar, Bradley F Boeve, Brendon P Boot, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Human Genetics|March 25, 2009
Novel human pathological mutations. Gene symbol: SLC34A2. Disease: pulmonary alveolar microlithiasisJay Ellison
Human Genetics|January 29, 2010
Novel human pathological mutations. Gene symbol: PTEN. Disease: PTEN Hamartoma Tumour SyndromeJay Ellison, David Driscoll
Human Genetics|April 14, 2011
Novel human pathological mutations. Gene symbol: ACVRL1. Disease: haemorrhagic telangiectasia 2Jay Ellison, Neeraj Kumar
Human Genetics|March 25, 2009
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemicJay Ellison, Peter Tebben
American Journal of Ophthalmology|February 5, 2008
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6Elias I Traboulsi, Jay Ellison, Jonathan Sears, et al.
JIMD Reports|February 23, 2013
A Non-classical Presentation of Tangier Disease with Three ABCA1 MutationsMuhammad Ali Pervaiz, Gerald Gau, Allan S Jaffe, et al.
Molecular Genetics and Metabolism|June 16, 2010
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningJaffar Alfardan, Al-Walid Mohsen, Sara Copeland, et al.
Archives of Neurology|September 14, 2011
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein geneNeeraj Kumar, Bradley F Boeve, Brendon P Boot, et al.
Pageof 2