検索結果 - Tsilou, Ekaterini

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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... 著者: 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 著者: 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 著者: 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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