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Jessica C Gardner

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Investigative Ophthalmology & Visual Science|August 22, 2018
Residual Cone Structure in Patients With X-Linked Cone Opsin MutationsEmily J Patterson, Angelos Kalitzeos, Melissa Kasilian, et al.
Molecular Vision|May 8, 2009
Blue cone monochromacy: causative mutations and associated phenotypesJessica C Gardner, Michel Michaelides, Graham E Holder, et al.
The Journal of Clinical Endocrinology and Metabolism|September 29, 2005
Bone mineral density in sclerosteosis; affected individuals and gene carriersJessica C Gardner, Rutger L van Bezooijen, Benjamin Mervis, et al.
American Journal of Medical Genetics|July 13, 2002
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch populationKaren Staehling-Hampton, Sean Proll, Bryan W Paeper, et al.
European Journal of Human Genetics : EJHG|August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
Human Molecular Genetics|May 24, 2012
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Tom R Webb, David A Parfitt, Jessica C Gardner, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Investigative Ophthalmology & Visual Science|August 22, 2018
Residual Cone Structure in Patients With X-Linked Cone Opsin MutationsEmily J Patterson, Angelos Kalitzeos, Melissa Kasilian, et al.
Molecular Vision|May 8, 2009
Blue cone monochromacy: causative mutations and associated phenotypesJessica C Gardner, Michel Michaelides, Graham E Holder, et al.
The Journal of Clinical Endocrinology and Metabolism|September 29, 2005
Bone mineral density in sclerosteosis; affected individuals and gene carriersJessica C Gardner, Rutger L van Bezooijen, Benjamin Mervis, et al.
American Journal of Medical Genetics|July 13, 2002
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch populationKaren Staehling-Hampton, Sean Proll, Bryan W Paeper, et al.
European Journal of Human Genetics : EJHG|August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
Human Molecular Genetics|May 24, 2012
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Tom R Webb, David A Parfitt, Jessica C Gardner, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Pageof 2