Resultados de procura - Rebecca Mar‐Heyming

  • Mostrando 1 - 5 Resultados de 5
Limitar resultados
  1. 1
    Association of Stearoyl-CoA Desaturase 1 Activity With Familial Combined Hyperlipidemia

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

    Publicado 2008
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  2. 2
    Systematic design and comparison of expanded carrier screening panels

    Systematic design and comparison of expanded carrier screening panels por 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

    Publicado 2017
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  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 por 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

    Publicado 2018
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  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 por 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

    Publicado 2018
    Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:
  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 por 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

    Publicado 2019
    Ligazón do recurso Ligazón do recurso
    Artigo
    Engadir a favoritos
    Gardado en:

Ferramentas de procura: