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Genetics Home Reference: autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision… Read More »

Genetics Home Reference: Smith-Kingsmore syndrome

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018 Apr;93(4):762-775.… Read More »

New Scientist – Home

New Scientist – Home New Scientist – Home https://www.newscientist.com New Scientist – Home https://www.newscientist.com/wp-content/themes/new-scientist/img/ns-logo-scaled.png https://www.newscientist.com daily 1 Exhibition previews: Visions of a better tomorrow brighten 2019 https://www.newscientist.com/article/mg24132110-800-exhibition-previews-visions-of-a-better-tomorrow-brighten-2019/?utm_campaign=RSS%7CNSNS&utm_source=NSNS&utm_medium=RSS&utm_content=%7B%7Bterm%7D%7D&campaign_id=RSS%7CNSNS-%7B%7Bterm%7D%7D Sun, 06 Jan 2019 10:00:00 +0000 Plug-and-play human organs, non-human intelligences and missions to Mars add speculative spice to a year of cultural events focused on the future… Read More »