Showing 1 - 10 results of 10 for search 'Robert B Hufnagel', query time: 0.03s
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Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways by Ameera Mungale, David M. McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P. Brooks, Arvydas Maminishkis, Temesgen D. Fufa, Robert B. Hufnagel
Published 2022-11-01
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Clinical Phenotypes of <i>CDHR1</i>-Associated Retinal Dystrophies by Volha V. Malechka, Catherine A. Cukras, Emily Y. Chew, Yuri V. Sergeev, Delphine Blain, Brett G. Jeffrey, Ehsan Ullah, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein
Published 2022-05-01
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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features by Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Published 2019-11-01
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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. by Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets
Published 2022-03-01
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Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics by Nancy Aguilera, Tao Liu, Andrew J. Bower, Joanne Li, Sarah Abouassali, Rongwen Lu, John Giannini, Maximilian Pfau, Chelsea Bender, Margery G. Smelkinson, Amelia Naik, Bin Guan, Owen Schwartz, Andrei Volkov, Alfredo Dubra, Zhuolin Liu, Daniel X. Hammer, Dragan Maric, Robert Fariss, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks, Wadih M. Zein, Laryssa A. Huryn, Johnny Tam
Published 2022-09-01
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. by Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Published 2019-05-01
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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors by Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Published 2024-01-01
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