检索结果 - Bakall, Benjamin
- Showing 1 - 7 results of 7
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Reduced penetrance in a large Caucasian pedigree with Stickler syndrome 由 Tompson, Stuart W., Johnson, Charles, Abbott, Diana, Bakall, Benjamin, Soler, Vincent, Yanovitch, Tammy L., Whisenhunt, Kristina N., Klemm, Thomas, Rozen, Steve, Stone, Edwin M., Johnson, Max, Young, Terri L.
出版 2017Text -
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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease 由 Braun, Terry A., Mullins, Robert F., Wagner, Alex H., Andorf, Jeaneen L., Johnston, Rebecca M., Bakall, Benjamin B., Deluca, Adam P., Fishman, Gerald A., Lam, Byron L., Weleber, Richard G., Cideciyan, Artur V., Jacobson, Samuel G., Sheffield, Val C., Tucker, Budd A., Stone, Edwin M.
出版 2013Text -
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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome 由 da Palma, Mariana Matioli, Igelman, Austin D., Ku, Cristy, Burr, Amanda, You, Jia Yue, Place, Emily M., Wang, Nan-Kai, Oh, Jin Kyun, Branham, Kari E., Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael B., Lam, Byron L., Ronquillo, Cecinio C., Bernstein, Paul S., Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle T., Kelly, John P., Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert B., Zein, Wadih M., Koenekoop, Robert K., Birch, David G., Yang, Paul, Fahim, Abigail T., Pennesi, Mark E.
出版 2021Text -
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis 由 Biswas, Pooja, Villanueva, Adda L., Soto-Hermida, Angel, Duncan, Jacque L., Matsui, Hiroko, Borooah, Shyamanga, Kurmanov, Berzhan, Richard, Gabriele, Khan, Shahid Y., Branham, Kari, Huang, Bonnie, Suk, John, Bakall, Benjamin, Goldberg, Jeffrey L., Gabriel, Luis, Khan, Naheed W., Raghavendra, Pongali B., Zhou, Jason, Devalaraja, Sindhu, Huynh, Andrew, Alapati, Akhila, Zawaydeh, Qais, Weleber, Richard G., Heckenlively, John R., Hejtmancik, J. Fielding, Riazuddin, Sheikh, Sieving, Paul A., Riazuddin, S. Amer, Frazer, Kelly A., Ayyagari, Radha
出版 2021Text