检索结果 - Elly Lynch

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  1. 1
    The gene for an inherited form of deafness maps to chromosome 5q31.

    The gene for an inherited form of deafness maps to chromosome 5q31. 由 Pedro León, Henriette Raventós, Elly Lynch, Jennifer L. Morrow, Mary‐Claire King

    出版 1992
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  2. 2
    Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

    Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project 由 Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J. Amor

    出版 2020
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  3. 3
    Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

    Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy 由 Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, S. Lockwood, Robert G. Weintraub, T. Thompson, Alison H. Trainer, Dominica Zentner, Jitendra K. Vohra, Michael Chetrit, David L. Hare, Paul A. James

    出版 2020
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  4. 4
    Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

    Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH 由 Elizabeth Chow, Lara Lipton, Elly Lynch, Rebecca D’Souza, C. Aragona, L Hodgkin, Gregor J. Brown, Ingrid Winship, Melissa Barker, Daniel D. Buchanan, Shannon Cowie, Steve Nasioulas, Desirée du Sart, Joanne Young, Barbara Leggett, Jeremy R. Jass, Finlay Macrae

    出版 2006
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  5. 5
    Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

    Exome sequencing in infants with congenital hearing impairment: a population-based cohort study 由 Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F. Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L. Rehm, David J. Amor

    出版 2019
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  6. 6
    Clinical impact of genomic testing in patients with suspected monogenic kidney disease

    Clinical impact of genomic testing in patients with suspected monogenic kidney disease 由 Kushani Jayasinghe, Zornitza Stark, Peter G. Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew F. Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathy Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily See, Andrew Talbot, Alison H. Trainer, Rigan Tytherleigh, Giulia Valente, Mathew Wallis, Louise Wardrop, Kirsty West, Susan M. White, Ella Wilkins, Andrew Mallett, Catherine Quinlan

    出版 2020
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  7. 7
    Germ Line Mutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study

    Germ Line Mutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer: International Society for Gastrointestinal Hereditary Tu... 由 Jae‐Gahb Park, Duck-Woo Kim, Chang Won Hong, Byung‐Ho Nam, Young‐Kyoung Shin, Sung-Hye Hong, Il-Jin Kim, Seok‐Byung Lim, Melyssa Aronson, Marie Luise Bisgaard, Gregor J. Brown, John Burn, Elizabeth Chow, Peggy Conrad, Fiona Douglas, Malcolm G. Dunlop, James M. Ford, Marc S. Greenblatt, Heikki Järvinen, Karl Heinimann, Elly Lynch, Finlay Macrae, Wendy McKinnon, Gabriela Möslein, Bernard Rossi, Paul Rozen, Lyn Schofield, Carlos Vaccaro, Hans F. A. Vasen, Mary E. Velthuizen, Alessandra Viel, Juul Wijnen

    出版 2006
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