Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes von Schultz, Julie M, Bhatti, Rashid, Madeo, Anne C, Turriff, Amy, Muskett, Julie A, Zalewski, Christopher K, King, Kelly A, Ahmed, Zubair M, Riazuddin, Saima, Ahmad, Nazir, Hussain, Zawar, Qasim, Muhammad, Kahn, Shaheen N, Meltzer, Meira R, Liu, Xue Z, Munisamy, Murali, Ghosh, Manju, Rehm, Heidi L, Tsilou, Ekaterini T, Griffith, Andrew J, Zein, Wadih M, Brewer, Carmen C, Riazuddin, Sheikh, Friedman, Thomas B

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The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease von Robitaille, Johane M, Zheng, Binyou, Wallace, Karin, Beis, M Jill, Tatlidil, Cuneyt, Yang, Jenny, Sheidow, Tom G, Siebert, Lee, Levin, Alex V, Lam, Wai-Ching, Arthur, Brian W, Lyons, Christopher J, Jaakkola, Elisa, Tsilou, Ekaterini, Williams, Charles A, Weaver, Richard Grey, Shields, Carol L, Guernsey, Duane L

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Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 von Huizing, M, Pederson, B, Hess, R A, Griffin, A, Helip-Wooley, A, Westbroek, W, Dorward, H, O’Brien, K J, Golas, G, Tsilou, E, White, J G, Gahl, W A

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Novel mutations in the HPS1 gene among Puerto Rican patients von Carmona-Rivera, C, Hess, RA, O'Brien, K, Golas, G, Tsilou, E, White, JG, Gahl, WA, Huizing, M

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Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro von HAMEL, C. P, TSILOU, E, PFEFFER, B. A, HOOKS, J. J, DETRICK, B, REDMOND, T. M

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A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis von Tsilou, E T, Thompson, D, Lindblad, A S, Reed, G F, Rubin, B, Gahl, W, Thoene, J, Del Monte, M, Schneider, J A, Granet, D B, Kaiser-Kupfer, M I

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Neurofibromatosis type 2 von Asthagiri, Ashok R, Dr, Parry, Dilys M, PhD, Butman, John A, MD, Kim, H Jeffrey, MD, Tsilou, Ekaterini T, MD, Zhuang, Zhengping, Prof, Lonser, Russell R, Prof

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Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography von Zein, W. M., Falsini, B., Tsilou, E. T., Turriff, A. E., Schultz, J. M., Friedman, T. B., Brewer, C. C., Zalewski, C. K., King, K. A., Muskett, J. A., Rehman, A. U., Morell, R. J., Griffith, A. J., Sieving, P. A.

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Onset of oscillopsia after visual maturation in patients with congenital nystagmus von Hertle, Richard W, FitzGibbon, Edmond J, Avallone, John M, Cheeseman, Edward, Tsilou, E.Katarina

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Use of nitisinone in patients with alkaptonuria von Suwannarat, Pim, O'Brien, Kevin, Perry, Monique B., Sebring, Nancy, Bernardini, Isa, Kaiser-Kupfer, Muriel I., Rubin, Benjamin I., Tsilou, Ekaterina, Gerber, Lynn H., Gahl, William A.

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Stickler syndrome: Clinical characteristics and diagnostic criteria von Rose, Peter S., Levy, Howard P., Liberfarb, Ruth M., Davis, Joie, Szymko-Bennett, Y., Rubin, Benjamin I., Tsilou, Ekaterini, Griffith, Andrew J., Francomano, Clair A.

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A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina von Hamel, C. P., Tsilou, E., Harris, E., Pfeffer, B. A., Hooks, J. J., Detrick, B., Redmond, T. Michael

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Idiopathic intracranial hypertension in cystinosis von Dogulu, Cigdem F., Tsilou, Ekaterini, Rubin, Benjamin, FitzGibbon, Edmond J., Kaiser-Kupper, Muriel I, Rennert, Owen M., Gahl, William A.

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Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography von TSILOU, Ekaterini, CSAKY, Karl, RUBIN, Benjamin I, GAHL, William, KAISER-KUPFER, Muriel

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Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1 von Tsilou, Ekaterini T, Rubin, Benjamin I, Reed, George F, McCain, Lessie, Huizing, Marjan, White, James, Kaiser-Kupfer, Muriel I, Gahl, William

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RPE65, the Major Retinal Pigment Epithelium Microsomal Membrane Protein, Associates with Phospholipid Liposomes von Tsilou, Ekaterini, Hamel, Christian P., Yu, Shirley, Redmond, T.Michael

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Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis von Tsilou, Ekaterini T, Rubin, Benjamin I, Reed, George F, Iwata, Fumino, Gahl, William, Kaiser-Kupfer, Muriel I

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Eye Movement Abnormalities in Hermansky-Pudlak Syndrome von Gradstein, Libe, FitzGibbon, Edmond J., Tsilou, Ekaterini T., Rubin, Benjamin I., Huizing, Marjan, Gahl, William A.

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Eyelid myxoma in Carney complex without PRKAR1A allelic loss von Tsilou, Ekaterini T., Chan, Chi‐Chao, Sandrini, Fabiano, Rubin, Benjamin I., Shen, De Fen, Carney, J. Aidan, Kaiser‐Kupfer, Muriel, Stratakis, Constantine A.

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Transscleral infrared laser for retinal ablation without retinal visualization in an experimental model von Steidl, S M, Tsilou, E, Choe, H

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