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P M Cremers

Showing results (111-120 of 307) with videos related to

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Genes|August 23, 2017
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290Susanne Roosing, Frans P M Cremers, Frans C C Riemslag, et al.
Genes|March 10, 2018
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68Karin W Littink, Patricia T Y Stappers, Frans C C Riemslag, et al.
The Journal of Molecular Diagnostics : JMD|September 26, 2009
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS geneSascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, et al.
Cells|April 12, 2024
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt DiseaseNuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, et al.
Genome Research|November 23, 2017
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt diseaseRiccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, et al.
Investigative Ophthalmology & Visual Science|October 27, 2005
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogramChristina Zeitz, Maria van Genderen, John Neidhardt, et al.
Scientific Reports|September 17, 2020
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutationsAvigail Beryozkin, Samer Khateb, Carlos Alberto Idrobo-Robalino, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 10, 2005
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutationMartijn H Kemperman, Els M R De Leenheer, Patrick L M Huygen, et al.
The British Journal of Ophthalmology|January 22, 2002
Central areolar choroidal dystrophy associated with dominantly inherited drusenB Jeroen Klevering, Marc van Driel, August J M van Hogerwou, et al.
Genomics|September 19, 2003
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAsM W J Luijendijk, T J R van de Pol, G van Duijnhoven, et al.
Pageof 31

Showing results (111-120 of 307) with videos related to

Sort By:
Pageof 31
Genes|August 23, 2017
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290Susanne Roosing, Frans P M Cremers, Frans C C Riemslag, et al.
Genes|March 10, 2018
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68Karin W Littink, Patricia T Y Stappers, Frans C C Riemslag, et al.
The Journal of Molecular Diagnostics : JMD|September 26, 2009
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS geneSascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, et al.
Cells|April 12, 2024
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt DiseaseNuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, et al.
Genome Research|November 23, 2017
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt diseaseRiccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, et al.
Investigative Ophthalmology & Visual Science|October 27, 2005
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogramChristina Zeitz, Maria van Genderen, John Neidhardt, et al.
Scientific Reports|September 17, 2020
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutationsAvigail Beryozkin, Samer Khateb, Carlos Alberto Idrobo-Robalino, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 10, 2005
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutationMartijn H Kemperman, Els M R De Leenheer, Patrick L M Huygen, et al.
The British Journal of Ophthalmology|January 22, 2002
Central areolar choroidal dystrophy associated with dominantly inherited drusenB Jeroen Klevering, Marc van Driel, August J M van Hogerwou, et al.
Genomics|September 19, 2003
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAsM W J Luijendijk, T J R van de Pol, G van Duijnhoven, et al.
Pageof 31