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E59-Novel RCBTB1 variants and late-onset retinal dystrophy- Dr. Brian Ballios
Manage episode 323316010 series 2416620
Contenuto fornito da Keyvan Koushan, MD, and FRCSC. Tutti i contenuti dei podcast, inclusi episodi, grafica e descrizioni dei podcast, vengono caricati e forniti direttamente da Keyvan Koushan, MD, and FRCSC o dal partner della piattaforma podcast. Se ritieni che qualcuno stia utilizzando la tua opera protetta da copyright senza la tua autorizzazione, puoi seguire la procedura descritta qui https://it.player.fm/legal.
Dr. Ballios discusses his group's findings on novel mutations in the RCBTB1 gene that can cuase late-onset non-syndromic retinal dystrophies mimicking macular degeneration.
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Full article:
Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20:1-8. doi: 10.1080/13816810.2021.2023196. Epub ahead of print. PMID: 35057699.
81 episodi
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Manage episode 323316010 series 2416620
Contenuto fornito da Keyvan Koushan, MD, and FRCSC. Tutti i contenuti dei podcast, inclusi episodi, grafica e descrizioni dei podcast, vengono caricati e forniti direttamente da Keyvan Koushan, MD, and FRCSC o dal partner della piattaforma podcast. Se ritieni che qualcuno stia utilizzando la tua opera protetta da copyright senza la tua autorizzazione, puoi seguire la procedura descritta qui https://it.player.fm/legal.
Dr. Ballios discusses his group's findings on novel mutations in the RCBTB1 gene that can cuase late-onset non-syndromic retinal dystrophies mimicking macular degeneration.
…
continue reading
Full article:
Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20:1-8. doi: 10.1080/13816810.2021.2023196. Epub ahead of print. PMID: 35057699.
81 episodi
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Simile a The Retina Channel Podcast
How many organs could you donate and remain alive? How many planet Earths could fit inside the Sun? How high is a giraffe's blood pressure? Why is the sea blue? To find out, Ask The Naked Scientists!
…
continue reading
How can we, humans, look at our relationship to nature differently? In season three of Going Wild, on top of stories about animals, we invite you to journey through the entire ecological web — from the tiniest of life forms to apex predators — alongside the scientists, activists and adventurers who study it. Wildlife biologist and host Dr. Rae Wynn-Grant has been studying wild animals in their natural habitats all over the world for years. Our award-winning podcast takes you inside the hidde ...
…
continue reading
A myriad of AI, science, and technology experts explore the real challenges and enormous opportunities facing entrepreneurs who are building the future of health. Raising Health, a podcast by a16z Bio + Health and hosted by Kris Tatiossian and Olivia Webb, dives deep into the heart of biotechnology and healthcare innovation. Join veteran company builders, operators, and investors Vijay Pande, Julie Yoo, Vineeta Agarwala, and Jorge Conde, along with distinguished guests like Mark Cuban, Greg ...
…
continue reading
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…
continue reading
The Naked Scientists flagship science show brings you a lighthearted look at the latest scientific breakthroughs, interviews with the world's top scientists, answers to your science questions and science experiments to try at home.
…
continue reading
PT Inquest is an online journal club. Hosted by Jason Tuori, Megan Graham, and Chris Juneau, the show looks at an article every week and discusses how it applies to current physical therapy practice.
…
continue reading
Flash Forward is a show about possible (and not so possible) future scenarios. What would the warranty on a sex robot look like? How would diplomacy work if we couldn’t lie? Could there ever be a fecal transplant black market? (Complicated, it wouldn’t, and yes, respectively, in case you’re curious.) Hosted and produced by award winning science journalist Rose Eveleth, each episode combines audio drama and journalism to go deep on potential tomorrows, and uncovers what those futures might re ...
…
continue reading
Emergency Medicine Cases – Where the Experts Keep You in the Know. For show notes, quizzes, videos and more learning tools please visit emergencymedicinecases.com
…
continue reading
Help me fill in the blanks of the practice of ED Critical Care. In this podcast, we discuss all things related to the crashing, critically ill patient in the Emergency Department. Find the show notes at emcrit.org.
…
continue reading
Artificial Intelligence has suddenly gone from the fringes of science to being everywhere. So how did we get here? And where's this all heading? In this new series of Science Friction, we're finding out.
…
continue reading
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