檢索結果 - Prasov, Lev
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ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous 由 Prasov, Lev, Masud, Tehmina, Khaliq, Shagufta, Mehdi, S. Qasim, Abid, Aiysha, Oliver, Edward R., Silva, Eduardo D., Lewanda, Amy, Brodsky, Michael C., Borchert, Mark, Kelberman, Daniel, Sowden, Jane C., Dattani, Mehul T., Glaser, Tom
出版 2012Text -
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort 由 Prasov, Lev, Guan, Bin, Ullah, Ehsan, Archer, Steven M., Ayres, Bernadete M., Besirli, Cagri G., Wiinikka-Buesser, Laurel, Comer, Grant M., Del Monte, Monte A., Elner, Susan G., Garnai, Sarah J., Huryn, Laryssa A., Johnson, Kayla, Kamat, Shivani S., Lieu, Philip, Mian, Shahzad I., Rygiel, Christine A., Serpen, Jasmine Y., Pawar, Hemant S., Brooks, Brian P., Moroi, Sayoko E., Richards, Julia E., Hufnagel, Robert B.
出版 2020Text -
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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation 由 Prasov, Lev, Bohnsack, Brenda L., Husny, Antonette El, Tsoi, Lam C., Guan, Bin, Kahlenberg, J. Michelle, Almeida, Edmundo, Wang, Haitao, Cowen, Edward W., De Jesus, Adriana A., Jani, Priyam, Billi, Allison C., Moroi, Sayoko E., Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana, Kok, Fernando, Garnai, Sarah J., Mian, Shahzad I., Chen, Marcus Y., Warner, Blake M., Ferreira, Carlos R., Goldbach-Mansky, Raphaela, Hur, Sun, Brooks, Brian P., Richards, Julia E., Hufnagel, Robert B., Gudjonsson, Johann E.
出版 2022Text -
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice 由 Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
出版 2019Text