检索结果 - Rebecca Mar‐Heyming

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  1. 1
    Association of Stearoyl-CoA Desaturase 1 Activity With Familial Combined Hyperlipidemia

    Association of Stearoyl-CoA Desaturase 1 Activity With Familial Combined Hyperlipidemia 由 Rebecca Mar‐Heyming, Makoto Miyazaki, Daphna Weissglas‐Volkov, Nicholas A. Kolaitis, Narimaan Sadaat, Christopher Plaisier, Päivi Pajukanta, Rita M. Cantor, Tjerk W.A. de Bruin, James M. Ntambi, Aldons J. Lusis

    出版 2008
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  2. 2
    Systematic design and comparison of expanded carrier screening panels

    Systematic design and comparison of expanded carrier screening panels 由 Kyle A. Beauchamp, Dale Muzzey, Kenny K. Wong, Gregory J. Hogan, Kambiz Karimi, Sophie I. Candille, Nikita Mehta, Rebecca Mar‐Heyming, Kristjan Eerik Kaseniit, Hyunseok P. Kang, Eric A. Evans, Judith D. Goldberg, Gabriel A. Lazarin, Imran S. Haque

    出版 2017
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  3. 3
    Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification

    Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification 由 Gregory J. Hogan, Valentina Vysotskaia, Kyle A. Beauchamp, Stefanie Seisenberger, Peter Grauman, Kevin R. Haas, Sun Hae Hong, Diana Jeon, Shera Kash, H. Henry Lai, Laura M. Melroy, Mark Theilmann, Clement Chu, Kevin Iori, Jared Maguire, Eric A. Evans, Imran S. Haque, Rebecca Mar‐Heyming, Hyunseok P. Kang, Dale Muzzey

    出版 2018
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  4. 4
    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach 由 Steven M. Harrison, Jill Dolinksy, Wenjie Chen, Christin Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Amy E. Knight Johnson, Juha Koskenvuo, Hane Lee, Rong Mao, Rebecca Mar‐Heyming, Andrew McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni Santani, Eija H. Seppälä, Brian H. Shirts, Timothy Tidwell, Scott Topper, Lisa M. Vincent, Kathy M. B. Vinette, Heidi L. Rehm

    出版 2018
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  5. 5
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel 由 Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    出版 2019
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