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F Nienke Boonstra

Showing results (31-40 of 44) with videos related to

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Acta Ophthalmologica|June 9, 2016
Shape of magnifiers affects controllability in children with visual impairmentJoyce Liebrand-Schurink, F Nienke Boonstra, Ger H M B van Rens, et al.
Ophthalmic Genetics|April 1, 2016
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophyYangfan P Liu, Daniëlle G M Bosch, Anna M Siemiatkowska, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Cerebral visual impairment and intellectual disability caused by PGAP1 variantsDaniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
Investigative Ophthalmology & Visual Science|March 28, 2009
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathyF Nienke Boonstra, C Erik van Nouhuys, José Schuil, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
Retina (Philadelphia, Pa.)|February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONSLaurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Acta Ophthalmologica|June 9, 2016
Shape of magnifiers affects controllability in children with visual impairmentJoyce Liebrand-Schurink, F Nienke Boonstra, Ger H M B van Rens, et al.
Ophthalmic Genetics|April 1, 2016
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophyYangfan P Liu, Daniëlle G M Bosch, Anna M Siemiatkowska, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Cerebral visual impairment and intellectual disability caused by PGAP1 variantsDaniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
Investigative Ophthalmology & Visual Science|March 28, 2009
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathyF Nienke Boonstra, C Erik van Nouhuys, José Schuil, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
Retina (Philadelphia, Pa.)|February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONSLaurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Pageof 5