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Robert K Koenekoop

Showing results (41-50 of 122) with videos related to

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Retina (Philadelphia, Pa.)|February 17, 2021
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A ReviewBart P Leroy, David G Birch, Jacque L Duncan, et al.
European Journal of Medical Genetics|December 20, 2021
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathyAndrea Accogli, Charbel El Kosseifi, Christine Saint-Martin, et al.
Human Molecular Genetics|June 23, 2012
Expression of PRPF31 and TFPT: regulation in health and retinal diseaseAnna M Rose, Amna Z Shah, Naushin H Waseem, et al.
Ophthalmic Genetics|February 9, 2016
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaRodrigo Matsui, David B McGuigan Iii, Michaela L Gruzensky, et al.
Molecular Vision|September 26, 2007
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt diseaseSuzanne Yzer, L Ingeborgh van den Born, Marijke N Zonneveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1Zachry T Soens, Yuanyuan Li, Li Zhao, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 9, 2002
Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutationsRobert K Koenekoop, Gerald A Fishman, Alessandro Iannaccone, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder PopulationRazek Georges Coussa, Christina Chakarova, Radwan Ajlan, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant, Maigi Külm, Sharola Dharmaraj, et al.
Molecular Vision|February 23, 2012
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290Suzanne Yzer, Anneke I den Hollander, Irma Lopez, et al.
Pageof 13

Showing results (41-50 of 122) with videos related to

Sort By:
Pageof 13
Retina (Philadelphia, Pa.)|February 17, 2021
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A ReviewBart P Leroy, David G Birch, Jacque L Duncan, et al.
European Journal of Medical Genetics|December 20, 2021
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathyAndrea Accogli, Charbel El Kosseifi, Christine Saint-Martin, et al.
Human Molecular Genetics|June 23, 2012
Expression of PRPF31 and TFPT: regulation in health and retinal diseaseAnna M Rose, Amna Z Shah, Naushin H Waseem, et al.
Ophthalmic Genetics|February 9, 2016
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaRodrigo Matsui, David B McGuigan Iii, Michaela L Gruzensky, et al.
Molecular Vision|September 26, 2007
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt diseaseSuzanne Yzer, L Ingeborgh van den Born, Marijke N Zonneveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1Zachry T Soens, Yuanyuan Li, Li Zhao, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 9, 2002
Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutationsRobert K Koenekoop, Gerald A Fishman, Alessandro Iannaccone, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder PopulationRazek Georges Coussa, Christina Chakarova, Radwan Ajlan, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant, Maigi Külm, Sharola Dharmaraj, et al.
Molecular Vision|February 23, 2012
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290Suzanne Yzer, Anneke I den Hollander, Irma Lopez, et al.
Pageof 13