Search Results - Chander, Varuna
- Showing 1 - 5 results of 5
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome by Khayat, Michael M., Li, He, Chander, Varuna, Hu, Jianhong, Hansen, Adam W., Li, Shoudong, Traynelis, Josh, Shen, Hua, Weissenberger, George, Stossi, Fabio, Johnson, Hannah L., Lupski, James R., Posey, Jennifer E., Sabo, Aniko, Meng, Qingchang, Murdock, David R., Wangler, Michael, Gibbs, Richard A.
Published 2021Text -
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AHDC1 missense mutations in Xia-Gibbs syndrome by Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.
Published 2021Text -
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Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases by Montenegro-Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N, Madan-Khetarpal, Suneeta, Scott, Daryl A., Abarca-Barriga, Hugo, Trubnykova, Milana, Gingras, Marie-Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard
Published 2020Text -
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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications by Murdock, David R., Venner, Eric, Muzny, Donna M., Metcalf, Ginger A., Murugan, Mullai, Hadley, Trevor D., Chander, Varuna, De Vries, Paul, Jia, Xiaoming, Hussain, Aliza, Agha, Ali M., Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Hu, Jianhong, Tian, Xia, Cohen, Michelle, Yi, Victoria, Kovar, Christie L., Gingras, Marie-Claude, Korchina, Viktoriya, Howard, Chad, Riconda, Daniel L., Pereira, Stacey, Smith, Hadley, Huda, Zohra A., Buentello, Alexandria, Marino, Patricia R., Leiber, Lee, Balasubramanyam, Ashok, Amos, Christopher I., Civitello, Andrew, Chelu, Mihail G., Maag, Ronald, McGuire, Amy L., Boerwinkle, Eric, Wehrens, Xander H.T., Ballantyne, Christie M., Gibbs, Richard A.
Published 2021Text