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Showing results (121-130 of 307) with videos related to

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Frontiers in Cell and Developmental Biology|November 1, 2021
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 PatientsAvigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3Arjan P M de Brouwer, Hendrikus P M Kunst, Alice Krebsova, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosisSuzanne Yzer, Gerald A Fishman, Julie Racine, et al.
Molecular Vision|June 6, 2012
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosaMuhammad Ajmal, Muhammad Imran Khan, Shazia Micheal, et al.
American Journal of Human Genetics|April 20, 2010
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosaRob W J Collin, Christine Safieh, Karin W Littink, et al.
Human Molecular Genetics|June 21, 2011
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinaseKarlien L M Coene, Dorus A Mans, Karsten Boldt, et al.
The British Journal of Ophthalmology|May 17, 2007
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatusCamiel J F Boon, Mary J van Schooneveld, Anneke I den Hollander, et al.
Genes|December 14, 2017
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARSAnna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, et al.
Investigative Ophthalmology & Visual Science|December 24, 2003
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16Janneke J C van Lith-Verhoeven, Carel B Hoyng, Bellinda van den Helm, et al.
Molecular Immunology|March 20, 2009
The spectrum of phenotypes caused by variants in the CFH geneCamiel J F Boon, Nicole C van de Kar, B Jeroen Klevering, et al.
Pageof 31

Showing results (121-130 of 307) with videos related to

Sort By:
Pageof 31
Frontiers in Cell and Developmental Biology|November 1, 2021
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 PatientsAvigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3Arjan P M de Brouwer, Hendrikus P M Kunst, Alice Krebsova, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosisSuzanne Yzer, Gerald A Fishman, Julie Racine, et al.
Molecular Vision|June 6, 2012
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosaMuhammad Ajmal, Muhammad Imran Khan, Shazia Micheal, et al.
American Journal of Human Genetics|April 20, 2010
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosaRob W J Collin, Christine Safieh, Karin W Littink, et al.
Human Molecular Genetics|June 21, 2011
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinaseKarlien L M Coene, Dorus A Mans, Karsten Boldt, et al.
The British Journal of Ophthalmology|May 17, 2007
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatusCamiel J F Boon, Mary J van Schooneveld, Anneke I den Hollander, et al.
Genes|December 14, 2017
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARSAnna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, et al.
Investigative Ophthalmology & Visual Science|December 24, 2003
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16Janneke J C van Lith-Verhoeven, Carel B Hoyng, Bellinda van den Helm, et al.
Molecular Immunology|March 20, 2009
The spectrum of phenotypes caused by variants in the CFH geneCamiel J F Boon, Nicole C van de Kar, B Jeroen Klevering, et al.
Pageof 31