תוצאות חיפוש - Javed, Asif
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MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance מאת Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
יצא לאור 2020Text -
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Validation and refinement of a RUNX1 mutation-associated gene expression signature in blast crisis chronic myeloid leukemia מאת Lee, Kian Leong, Ko, Tun Kiat, Saw, Nicole Y. L., Javed, Asif, Hillmer, Axel M., Chuah, Charles, Krishnan, Vaidehi, Ong, S. Tiong
יצא לאור 2022Text -
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Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis מאת Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Jensen, Laran T., Chunsuwan, Issarapa, Rojnueangnit, Kitiwan, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Shiao, Meng-Shin, Sirachainan, Nongnuch, Wattanasirichaigoon, Duangrurdee
יצא לאור 2020Text -
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Experimental and bioinformatics considerations in cancer application of single cell genomics מאת Tan, Joanna Hui Juan, Kong, Say Li, Tai, Joyce A., Poh, Huay Mei, Yao, Fei, Sia, Yee Yen, Lim, Edwin Kok Hao, Takano, Angela Maria, Tan, Daniel Shao-Weng, Javed, Asif, Hillmer, Axel M.
יצא לאור 2020Text -
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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? מאת Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger
יצא לאור 2016Text -
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Redefining prognostication of de novo cytogenetically normal acute myeloid leukemia in young adults מאת Tsui, Sze P., Ip, Ho W., Saw, Nicole Y., Zhang, Chunxiao, Cheung, Arthur K., Ng, Nelson K., Man, Cheuk H., Lam, Stephen S., Tang, Wing F., Lin, Chi H., Cheng, Grace H., Au, Chun H., Ma, Edmond S., Chan, Tsun L., So, Jason C., Ng, Margaret H., Cheng, Kelvin C., Wong, Kit F., Siu, Lai P., Yip, Sze F., Lin, Shek Y., Lau, June S., Luk, Tsan H., Lee, Harold K., Lau, Chi K., Kho, Bonnie, Sim, Joycelyn P., Kwong, Yok L., Leung, Suet Y., Javed, Asif, Leung, Anskar Y.
יצא לאור 2020Text -
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Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness מאת Heilmann-Heimbach, Stefanie, Herold, Christine, Hochfeld, Lara M., Hillmer, Axel M., Nyholt, Dale R., Hecker, Julian, Javed, Asif, Chew, Elaine G. Y., Pechlivanis, Sonali, Drichel, Dmitriy, Heng, Xiu Ting, del Rosario, Ricardo C. -H., Fier, Heide L., Paus, Ralf, Rueedi, Rico, Galesloot, Tessel E., Moebus, Susanne, Anhalt, Thomas, Prabhakar, Shyam, Li, Rui, Kanoni, Stavroula, Papanikolaou, George, Kutalik, Zoltán, Deloukas, Panos, Philpott, Michael P., Waeber, Gérard, Spector, Tim D., Vollenweider, Peter, Kiemeney, Lambertus A. L. M., Dedoussis, George, Richards, J. Brent, Nothnagel, Michael, Martin, Nicholas G., Becker, Tim, Hinds, David A., Nöthen, Markus M.
יצא לאור 2017Text -
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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder מאת Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.
יצא לאור 2019Text -
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Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations מאת Dulik, Matthew C., Owings, Amanda C., Gaieski, Jill B., Vilar, Miguel G., Andre, Alestine, Lennie, Crystal, Mackenzie, Mary Adele, Kritsch, Ingrid, Snowshoe, Sharon, Wright, Ruth, Martin, James, Gibson, Nancy, Andrews, Thomas D., Schurr, Theodore G., Adhikarla, Syama, Adler, Christina J., Balanovska, Elena, Balanovsky, Oleg, Bertranpetit, Jaume, Clarke, Andrew C., Comas, David, Cooper, Alan, Der Sarkissian, Clio S. I., GaneshPrasad, ArunKumar, Haak, Wolfgang, Haber, Marc, Hobbs, Angela, Javed, Asif, Jin, Li, Kaplan, Matthew E., Li, Shilin, Martínez-Cruz, Begoña, Matisoo-Smith, Elizabeth A., Melé, Marta, Merchant, Nirav C., Mitchell, R. John, Parida, Laxmi, Pitchappan, Ramasamy, Platt, Daniel E., Quintana-Murci, Lluis, Renfrew, Colin, Lacerda, Daniela R., Royyuru, Ajay K., Santos, Fabrício R., Soodyall, Himla, Soria Hernanz, David F., Swamikrishnan, Pandikumar, Tyler-Smith, Chris, Santhakumari, Arun Varatharajan, Vieira, Pedro Paulo, Wells, R. Spencer, Zalloua, Pierre A., Ziegle, Janet S.
יצא לאור 2012Text -
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge מאת Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
יצא לאור 2014Text