Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Autor: Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., Engle, Elizabeth C.

Publikováno v: In Genetics in Medicine July 2024

Healing architecture - A different approach of hospital design

Autor: Zubcov Danina

Publikováno v: MATEC Web of Conferences, Vol 396, p 07001 (2024)

Every day, in hospitals around the world, thousands of people spend hours, days, months for investigations, diagnosis or treatment, in search of healing. For patients and their families, the experience of the time spent in the hospital is often a cru

Externí odkaz: https://doaj.org/article/229bbd8e81bc48f0ab4c86d1540d98e3

Juzgar los crímenes de Estado. A 15 años de la reapertura de los juicios en Argentina

Autor: Camila Zubcov

Publikováno v: Revista de Estudios sobre Genocidio, Vol 17 (2022)

Autora: Camila Zubcov. Licenciada en Sociología (UBA). Investigadora y coordinadora de proyectos en el Observatorio de Género y Políticas Públicas (OGYPP). Integrante del Observatorio de Crímenes de Estado (OCE).

Externí odkaz: https://doaj.org/article/aee2ba4f61f949fe94233bf9d17e22d1

Discordant phenotypes in twins with infantile nystagmus

Autor: Abdullah Aamir, Helen J. Kuht, Rebecca J. McLean, Gail D. E. Maconachie, Viral Sheth, Basu Dawar, Ravi Purohit, Nicolas Sylvius, Michael Hisaund, Alina Zubcov-Iwantscheff, Frank A. Proudlock, Irene Gottlob, Mervyn G. Thomas

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)

Abstract Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the first time

Externí odkaz: https://doaj.org/article/ef1b1a87fe7e4fe99e8c5be8c90a8040

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