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Obstetrics and Gynecology|March 10, 2016
Ultrasound Measurement of the Fetal Adrenal Gland as a Predictor of Spontaneous Preterm BirthMatthew K Hoffman, Ozhan M Turan, Corette B Parker, et al.American Journal of Human Genetics|January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentTom R Webb, Mar Matarin, Jessica C Gardner, et al.American Journal of Human Genetics|July 26, 2016
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates TranscriptionCristina Dias, Sara B Estruch, Sarah A Graham, et al.American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.Nature Biotechnology|March 20, 2018
Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degenerationLyndon da Cruz, Kate Fynes, Odysseas Georgiadis, et al.Gene Therapy|April 23, 2011
Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lungG McLachlan, H Davidson, E Holder, et al.Science (New York, N.Y.)|September 29, 2007
Genomic minimalism in the early diverging intestinal parasite Giardia lambliaHilary G Morrison, Andrew G McArthur, Frances D Gillin, et al.The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.Brain Communications|September 1, 2021
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2020
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionLisa Lenaerts, Sara Reynhout, Iris Verbinnen, et al.Pageof 36