Showing results (311-320 of 356) with videos related to
Sort By:
Pageof 36
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.FEMS Microbiology Letters|August 10, 2000
The Giardia genome project databaseA G McArthur, H G Morrison, J E Nixon, et al.Stem Cell Reports|January 15, 2021
Surgical Transplantation of Human RPE Stem Cell-Derived RPE Monolayers into Non-Human Primates with ImmunosuppressionZengping Liu, Bhav Harshad Parikh, Queenie Shu Woon Tan, et al.American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.European Journal of Human Genetics : EJHG|February 3, 2018
A clinical and molecular characterisation of CRB1-associated maculopathyKamron N Khan, Anthony Robson, Omar A R Mahroo, et al.Human Mutation|June 20, 2003
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL geneM Spentchian, Y Merrien, M Herasse, et al.Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.Pageof 36