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Showing results (81-90 of 307) with videos related to

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Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, et al.
Investigative Ophthalmology & Visual Science|December 22, 2016
Asymmetric Inter-Eye Progression in Stargardt DiseaseStanley Lambertus, Nathalie M Bax, Joannes M M Groenewoud, et al.
Human Mutation|January 4, 2017
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy CasesStéphanie S Cornelis, Nathalie M Bax, Jana Zernant, et al.
Stem Cell Research|February 5, 2022
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, et al.
American Journal of Human Genetics|February 7, 2008
Basal laminar drusen caused by compound heterozygous variants in the CFH geneCamiel J F Boon, B Jeroen Klevering, Carel B Hoyng, et al.
Human Mutation|November 16, 2005
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing lossE Kalay, A Karaguzel, R Caylan, et al.
Retina (Philadelphia, Pa.)|April 10, 2009
Clinical and molecular genetic analysis of best vitelliform macular dystrophyCamiel J F Boon, Thomas Theelen, Elisabeth H Hoefsloot, 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.
Ophthalmology|August 29, 2006
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogramAgnes B Renner, Ulrich Kellner, Elke Cropp, et al.
Molecular Vision|September 16, 2009
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani familyMaleeha Azam, Rob W J Collin, Muhammad Imran Khan, et al.
Pageof 31

Showing results (81-90 of 307) with videos related to

Sort By:
Pageof 31
Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, et al.
Investigative Ophthalmology & Visual Science|December 22, 2016
Asymmetric Inter-Eye Progression in Stargardt DiseaseStanley Lambertus, Nathalie M Bax, Joannes M M Groenewoud, et al.
Human Mutation|January 4, 2017
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy CasesStéphanie S Cornelis, Nathalie M Bax, Jana Zernant, et al.
Stem Cell Research|February 5, 2022
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, et al.
American Journal of Human Genetics|February 7, 2008
Basal laminar drusen caused by compound heterozygous variants in the CFH geneCamiel J F Boon, B Jeroen Klevering, Carel B Hoyng, et al.
Human Mutation|November 16, 2005
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing lossE Kalay, A Karaguzel, R Caylan, et al.
Retina (Philadelphia, Pa.)|April 10, 2009
Clinical and molecular genetic analysis of best vitelliform macular dystrophyCamiel J F Boon, Thomas Theelen, Elisabeth H Hoefsloot, 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.
Ophthalmology|August 29, 2006
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogramAgnes B Renner, Ulrich Kellner, Elke Cropp, et al.
Molecular Vision|September 16, 2009
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani familyMaleeha Azam, Rob W J Collin, Muhammad Imran Khan, et al.
Pageof 31