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Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.
Human Genetics|June 27, 2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk, Dorien J R van de Pol, Bernd Wissinger, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
American Journal of Human Genetics|July 15, 2014
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophySusanne Roosing, Ideke J C Lamers, Erik de Vrieze, et al.
Human Mutation|October 1, 2003
Genotyping microarray (gene chip) for the ABCR (ABCA4) geneK Jaakson, J Zernant, M Külm, et al.
American Journal of Human Genetics|February 9, 2010
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentMargit Schraders, Kwanghyuk Lee, Jaap Oostrik, et al.
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Human Molecular Genetics|May 8, 2007
L1 retrotransposition can occur early in human embryonic developmentJosé A J M van den Hurk, Iwan C Meij, Maria del Carmen Seleme, et al.
Molecular Vision|April 27, 2005
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk, Penny Rashbass, Ronald Roepman, et al.
Molecular Vision|June 19, 2014
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosisAnna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, et al.
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