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Kidney International|April 21, 2005
Anemia is a new complication in Fabry disease: data from the Fabry Outcome SurveyJulia Kleinert, François Dehout, Andreas Schwarting, et al.American Journal of Hypertension|August 1, 2006
Prevalence of uncontrolled hypertension in patients with Fabry diseaseJulia Kleinert, François Dehout, Andreas Schwarting, et al.Human Molecular Genetics|February 18, 2003
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmoninDominique Weil, Aziz El-Amraoui, Saber Masmoudi, et al.European Journal of Human Genetics : EJHG|April 18, 2006
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutationsShunji Tomatsu, Kazuko Sukegawa, Georgeta G Trandafirescu, et al.Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology|March 23, 2015
Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrestMalte Kriegs, Kristin Gurtner, Yildiz Can, et al.Molecular Genetics and Metabolism|September 15, 2019
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotypeOlga Azevedo, Andreas Gal, Rui Faria, et al.Human Molecular Genetics|June 18, 2011
Ccdc66 null mutation causes retinal degeneration and dysfunctionWanda M Gerding, Sabrina Schreiber, Tobias Schulte-Middelmann, et al.American Journal of Human Genetics|August 14, 2010
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosaThomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, et al.Orphanet Journal of Rare Diseases|March 12, 2015
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, et al.Pageof 9