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Human Mutation|August 31, 2006
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndromeKathy King, Frances A Flinter, Peter M GreenHuman Genetics|November 19, 2002
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndromeKathy King, Frances A Flinter, Vandana Nihalani, et al.Journal of the American Society of Nephrology : JASN|September 21, 2013
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndromeHelen Storey, Judy Savige, Vanessa Sivakumar, et al.European Journal of Human Genetics : EJHG|February 7, 2013
Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort studyPaul N Scriven, Frances A Flinter, Yakoub Khalaf, et al.Pediatric Nephrology (Berlin, Germany)|May 3, 2019
The importance of clinician, patient and researcher collaborations in Alport syndromeMichelle N Rheault, Judith Savige, Michael J Randles, et al.Pediatric Nephrology (Berlin, Germany)|March 6, 2015
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney diseaseRachel Lennon, Helen M Stuart, Agnieszka Bierzynska, et al.Biological Psychiatry|August 23, 2020
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic IndividualsDwaipayan Adhya, Vivek Swarup, Roland Nagy, et al.Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.Pageof 1