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The Journal of Investigative Dermatology|November 18, 2006
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entityOlivier M Vanakker, Ludovic Martin, Dealba Gheduzzi, et al.Nature Reviews. Genetics|April 5, 2012
From patients to partners: participant-centric initiatives in biomedical researchJane Kaye, Liam Curren, Nick Anderson, et al.Stem Cell Reports|June 27, 2025
Transparency and ongoing communication with participants in brain organoid research: Consensus of an interdisciplinary working groupBetty Cohn, Megan Doerr, Pamela Feliciano, et al.Human Genetics|October 18, 2002
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South AfricaOlivier Le Saux, Konstanze Beck, Christine Sachsinger, et al.Investigative Ophthalmology & Visual Science|February 6, 2025
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1Kristina Pfau, Georg Ansari, Stephan Michels, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohortAmir Hossein Saeidian, Leila Youssefian, Jianhe Huang, et al.Human Mutation|November 1, 2022
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individualsFlora Szeri, Agnes Miko, Nastassia Navasiolava, et al.American Journal of Medical Genetics. Part A|September 30, 2004
Ethical issues in identifying and recruiting participants for familial genetic researchLaura M Beskow, Jeffrey R Botkin, Mary Daly, et al.Journal of Medical Genetics|July 10, 2007
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumEllen G Pfendner, Olivier M Vanakker, Sharon F Terry, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Carrier testing for spinal muscular atrophyJonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, et al.Pageof 8