खोज परिणाम - Chander, Varuna

  • प्रदर्शित 1 - 5 परिणाम 5
परिणाम को परिष्कृत करें
  1. 1
    Evaluation of computational genotyping of structural variation for clinical diagnoses

    Evaluation of computational genotyping of structural variation for clinical diagnoses द्वारा Chander, Varuna, Gibbs, Richard A, Sedlazeck, Fritz J

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  2. 2
    Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome

    Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome द्वारा 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.

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  3. 3
    AHDC1 missense mutations in Xia-Gibbs syndrome

    AHDC1 missense mutations in Xia-Gibbs syndrome द्वारा 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.

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  4. 4
    Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

    Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases द्वारा 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

    प्रकाशित 2020
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  5. 5
    Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications

    Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications द्वारा 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.

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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