Výsledky vyhledávání - Tsilou, Ekaterini

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature Autor Tsilou, Ekaterini, Zhou, Min, Gahl, William, Sieving, Pamela C., Chan, Chi-Chao

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OCULAR AND ORBITAL MANIFESTATIONS OF THE INHERITED BONE MARROW FAILURE SYNDROMES: FANCONI ANEMIA AND DYSKERATOSIS CONGENITA Autor Tsilou, Ekaterini T., Giri, Neelam, Weinstein, Sarah, Mueller, Christine, Savage, Sharon A., Alter, Blanche P.

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Ocular Pathologic Features of Hermansky-Pudlak Syndrome Type 1 in an Adult Autor Zhou, Min, Gradstein, Libe, Gonzales, John A., Tsilou, Ekaterini T., Gahl, William A., Chan, Chi-Chao

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Inclusion of pregnant and breastfeeding women in research – efforts and initiatives Autor Illamola, Sílvia M., Bucci‐Rechtweg, Christina, Costantine, Maged M., Tsilou, Ekaterini, Sherwin, Catherine M., Zajicek, Anne

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Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent Autor Vincent, Lisa M., Adams, David, Hess, Richard A., Ziegler, Shira G., Tsilou, Ekaterini, Golas, Gretchen, O'Brien, Kevin J., White, James G., Huizing, Marjan, Gahl, William A.

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Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent Autor Carmona-Rivera, Carmelo, Golas, Gretchen, Hess, Richard, Cardillo, Nicholas D., Martin, Elijah H., O’Brien, Kevin, Tsilou, Ekaterini, Gochuico, Bernadette R, White, James G., Huizing, Marjan, Gahl, William A.

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Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6 Autor Huizing, Marjan, Pederson, Ben, Hess, Richard A, Griffin, Ashley, Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, O’Brien, Kevin J, Golas, Gretchen, Tsilou, Ekaterini, White, James G, Gahl, William A

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Chediak-Higashi Syndrome with early Developmental Delay resulting from Paternal Heterodisomy of Chromosome 1 Autor Manoli, Irini, Golas, Gretchen, Westbroek, Wendy, Vilboux, Thierry, Markello, Thomas C., Introne, Wendy, Maynard, Dawn, Pederson, Ben, Tsilou, Ekaterini, Jordan, Michael B., Hart, P. Suzanne, White, James G., Gahl, William A., Huizing, Marjan

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A 3-year Randomized Therapeutic Trial of Nitisinone in Alkaptonuria Autor Introne, Wendy J., Perry, Monique B., Troendle, James, Tsilou, Ekaterini, Kayser, Michael A., Suwannarat, Pim, O’Brien, Kevin E., Bryant, Joy, Sachdev, Vandana, Reynolds, James C., Moylan, Elizabeth, Bernardini, Isa, Gahl, William A.

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Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome Autor Wafa, Talah T., Faridi, Rabia, King, Kelly A., Zalewski, Christopher, Yousaf, Rizwan, Schultz, Julie M., Morell, Robert J., Muskett, Julie, Turriff, Amy, Tsilou, Ekaterini, Griffith, Andrew J., Friedman, Thomas B., Zein, Wadih M., Brewer, Carmen C.

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MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome Autor Gunay-Aygun, Meral, Parisi, Melissa A., Doherty, Dan, Tuchman, Maya, Tsilou, Ekaterini, Kleiner, David E., Huizing, Marjan, Turkbey, Baris, Choyke, Peter, Guay-Woodford, Lisa, Heller, Theo, Szymanska, Katarzyna, Johnson, Colin A., Glass, Ian, Gahl, William A.

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Intrauterine growth retardation associated with precocious puberty and Sertoli cell hyperplasia Autor Lodish, Maya B., Gartner, Lou Ann, Albini, Paul, Brodie, Angela, Meck, Jeanne M., Meloni-Ehrig, Aurelia M, Hill, Suvimol, Tsilou, Ekaterini, Carney, J. Aidan, Valera, Vladimir A., Walter, Beatriz A., Merino, Maria J., Stratakis, Constantine A.

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Dyskeratosis Congenita: The First NIH Clinical Research Workshop Autor Savage, Sharon A., Dokal, Inderjeet, Armanios, Mary, Aubert, Geraldine, Cowen, Edward W., Domingo, Demetrio L., Giri, Neelam, Greene, Mark H., Orchard, Paul J., Tolar, Jakub, Tsilou, Ekaterini, Van Waes, Carter, Wong, Judy M.Y., Young, Neal S., Alter, Blanche P.

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Placental Origins of Adverse Pregnancy Outcomes: Potential Molecular Targets- An Executive Workshop Summary of the Eunice Kennedy Shriver National Institute of Child Health and Hum... Autor Ilekis, John V., Tsilou, Ekaterini, Fisher, Susan, Abrahams, Vikki M., Soares, Michael J., Cross, James C., Zamudio, Stacy, Illsley, Nicholas P., Myatt, Leslie, Colvis, Christine, Costantine, Maged M., Haas, David M., Sadovsky, Yoel, Weiner, Carl, Rytting, Erik, Bidwell, Gene

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Ocular manifestations of xeroderma pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage Autor Brooks, Brian P, Thompson, Amy H, Bishop, Rachel J, Clayton, Janine A, Chan, Chi-Chao, Tsilou, Ekaterini T, Zein, Wadih M, Tamura, Deborah, Khan, Sikandar G., Ueda, Takahiro, Boyle, Jennifer, Oh, Kyu-Seon, Imoto, Kyoko, Inui, Hiroki, Moriwaki, Shin-Ichi, Emmert, Steffen, Iliff, Nicholas T., Bradford, Porcia, DiGiovanna, John J., Kraemer, Kenneth H

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Population Pharmacokinetics and Exploratory Exposure‐Response Relationships of Diazepam in Children Treated for Status Epilepticus Autor Ku, Lawrence C., Hornik, Christoph P., Beechinor, Ryan J., Chamberlain, James M., Guptill, Jeffrey T., Harper, Barrie, Capparelli, Edmund V., Martz, Karen, Anand, Ravinder, Cohen‐Wolkowiez, Michael, Gonzalez, Daniel, Furda, Gary, Benjamin, Danny, Kearns, Gregory L., Paul, Ian M., Sullivan, Jan, Hornik, Christoph P., Wade, Kelly, Siegel, David, Taylor‐Zapata, Perdita, Zajicek, Anne, Ren, Zhaoxia, Tsilou, Ekaterini, Pagan, Alice, Simone, Gina, Ku, Lawrence, Mills, Mary, Watt, Kevin

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