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van den Born

Showing results (681-690 of 717) with videos related to

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Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
The Lancet. Diabetes & Endocrinology|June 22, 2016
Adrenal vein sampling versus CT scan to determine treatment in primary aldosteronism: an outcome-based randomised diagnostic trialTanja Dekkers, Aleksander Prejbisz, Leo J Schultze Kool, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Investigative Ophthalmology & Visual Science|January 11, 2011
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Pageof 72

Showing results (681-690 of 717) with videos related to

Sort By:
Pageof 72
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
The Lancet. Diabetes & Endocrinology|June 22, 2016
Adrenal vein sampling versus CT scan to determine treatment in primary aldosteronism: an outcome-based randomised diagnostic trialTanja Dekkers, Aleksander Prejbisz, Leo J Schultze Kool, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Investigative Ophthalmology & Visual Science|January 11, 2011
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Pageof 72