检索结果 - Richard G. Weleber
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Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome) 由 Robert A. Egan, Richard G. Weleber, Penelope Hogarth, Allison Gregory, Jason Coryell, Shawn K. Westaway, Jane Gitschier, Soma Das, Susan J. Hayflick
出版 2005Artigo -
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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children 由 William J. Kimberling, Michael S. Hildebrand, A. Eliot Shearer, Maren Jensen, Jennifer A. Halder, Karmen M Trzupek, Edward Cohn, Richard G. Weleber, Edwin M. Stone, Richard J. Smith
出版 2010Artigo -
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Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency 由 Melanie B. Gillingham, Richard G. Weleber, Martha Neuringer, William E. Connor, Monte D. Mills, Sandy van Calcar, James N. Ver Hoeve, Jon A. Wolff, Cary O. Harding
出版 2005Artigo -
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Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With <i>RPE65</i>-Related Retinopathy Treated With Voretigene Neparvovec-rzyl 由 Cristy A. Ku, Austin D. Igelman, Samuel J. Huang, Huber Vasconcelos, Mariana Matioli da Palma, Steven T. Bailey, Andreas Lauer, Richard G. Weleber, Paul Yang, Mark E. Pennesi
出版 2023Artigo -
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Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa 由 Anjali M. Rajadhyaksha, Olivier Elemento, Erik G. Puffenberger, Kathryn C. Schierberl, Jenny Xiang, Maria Lisa Putorti, José Berciano, Chantal Poulin, Bernard Brais, Michel Michaelides, Richard G. Weleber, Joseph Higgins
出版 2010Artigo
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