Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Hill, R Sean"'
Autor:
Qian, Xuyu, DeGennaro, Ellen M., Talukdar, Maya, Akula, Shyam K., Lai, Abbe, Shao, Diane D., Gonzalez, Dilenny, Marciano, Jack H., Smith, Richard S., Hylton, Norma K., Yang, Edward, Bazan, J. Fernando, Barrett, Lee, Yeh, Rebecca C., Hill, R. Sean, Beck, Samantha G., Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E., Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C., Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S., Barnett, Christopher P., Arts, Peer, Sherr, Elliott H., Lupski, James R., Walsh, Christopher A.
Publikováno v:
In Developmental Cell 24 October 2022 57(20):2381-2396
Autor:
Smith, Richard S., Florio, Marta, Akula, Shyam K., Neil, Jennifer E., Wang, Yidi, Hill, R. Sean, Goldman, Melissa, Mullally, Christopher D., Reed, Nora, Bello-Espinosa, Luis, Flores-Sarnat, Laura, Monteiro, Fabiola Paoli, Erasmo, Casella B., e Vairo, Filippo Pinto, Morava, Eva, Barkovich, A. James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A., McCarroll, Steven A., Walsh, Christopher A.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2021 Jun . 118(25), 1-11.
Externí odkaz:
https://www.jstor.org/stable/27041091
Autor:
Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G. *, Walsh, Christopher A. *
Publikováno v:
In Genetics in Medicine June 2020 22(6):1040-1050
Autor:
Piao, Xianhua, Hill, R. Sean, Bodell, Adria, Chang, Bernard S., Basel-Vanagaite, Lina, Straussberg, Rachel, Dobyns, William B., Qasrawi, Bassam, Winter, Robin M., Innes, A. Micheil, Voit, Thomas, Ross, M. Elizabeth, Michaud, Jacques L., Déscarie, Jean-Claude, Barkovich, A. James, Walsh, Christopher A.
Publikováno v:
Science, 2004 Mar . 303(5666), 2033-2036.
Externí odkaz:
https://www.jstor.org/stable/3836350
Autor:
Ouyang, Qing, Nakayama, Tojo, Baytas, Ozan, Davidson, Shawn M., Yang, Chendong, Schmidt, Michael, Lizarraga, Sofia B., Mishra, Sasmita, EI-Quessny, Malak, Niaz, Saima, Butt, Mirrat Gul, Murtaza, Syed Imran, Javed, Afzal, Chaudhry, Haroon Rashid, Vaughan, Dylan J., Hill, R. Sean, Partlow, Jennifer N., Yoo, Seung-Yun, Lam, Anh-Thu N., Nasir, Ramzi, Al-Saffar, Muna, Barkovich, A. James, Schwede, Matthew, Nagpal, Shailender, Rajab, Anna, DeBerardinis, Ralph J., Housman, David E., Mochida, Ganeshwaran H., Morrow, Eric M.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2016 Sep . 113(38), E5598-E5607.
Externí odkaz:
https://www.jstor.org/stable/26471664
Autor:
Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.
Publikováno v:
In The American Journal of Human Genetics March 2015
Autor:
Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima
Publikováno v:
In The American Journal of Human Genetics 3 April 2014 94(4):547-558
Autor:
Yu, Timothy W., Chahrour, Maria H., Coulter, Michael E., Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A., Adli, Mazhar, Malik, Athar N., D’Gama, Alissa M., Lim, Elaine T., Sanders, Stephan J., Mochida, Ganesh H., Partlow, Jennifer N., Sunu, Christine M., Felie, Jillian M., Rodriguez, Jacqueline, Nasir, Ramzi H., Ware, Janice, Joseph, Robert M., Hill, R. Sean, Kwan, Benjamin Y., Al-Saffar, Muna, Mukaddes, Nahit M., Hashmi, Asif, Balkhy, Soher, Gascon, Generoso G., Hisama, Fuki M., LeClair, Elaine, Poduri, Annapurna, Oner, Ozgur, Al-Saad, Samira, Al-Awadi, Sadika A., Bastaki, Laila, Ben-Omran, Tawfeg, Teebi, Ahmad S., Al-Gazali, Lihadh, Eapen, Valsamma, Stevens, Christine R., Rappaport, Leonard, Gabriel, Stacey B., Markianos, Kyriacos, State, Matthew W., Greenberg, Michael E., Taniguchi, Hisaaki, Braverman, Nancy E., Morrow, Eric M., Walsh, Christopher A.
Publikováno v:
In Neuron 23 January 2013 77(2):259-273
Autor:
Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.
Publikováno v:
In The American Journal of Human Genetics 13 May 2011 88(5):536-547
Autor:
Smith, Richard S, Florio, Marta, Akula, Shyam K, Neil, Jennifer E, Wang, Yidi, Hill, R Sean, Goldman, Melissa, Mullally, Christopher D, Reed, Nora, Bello-Espinosa, Luis, Flores-Sarnat, Laura, Monteiro, Fabiola Paoli, Erasmo, Casella B, Pinto E Vairo, Filippo, Morava, Eva, Barkovich, A James, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A, McCarroll, Steven A, Walsh, Christopher A
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 118, iss 25
Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase α-subunit. Here, we describe ATP1A3 variants e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::13f9651895705ee8a4034e3a770b1dbb
https://escholarship.org/uc/item/4w7538rn
https://escholarship.org/uc/item/4w7538rn
