检索结果 - Jasmine Lee‐Fong Fung

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  1. 1
    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis 由 Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, Claudia Ching Yan Chung, Marcus C.Y. Chan, Sander Pajusalu, Christopher Chun Yu Mak, Vivian Chin Chin Hui, Mandy Ho Yin Tsang, Kit San Yeung, Monkol Lek, Brian Hon‐Yin Chung

    出版 2020
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  2. 2
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy 由 Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir

    出版 2019
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  3. 3
    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) 由 Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Wilfred Hing Sang Wong, Mandy Ho Yin Tsang, Mullin H.C. Yu, Steven Lim Cho Pei, Kit San Yeung, Gary Mok, C P Lee, Pui Wah Hui, Mary H.Y. Tang, Kelvin Y.K. Chan, Anthony P. Y. Liu, Wanling Yang, Pak C. Sham, Anita Sik Yau Kan, Brian Hon‐Yin Chung

    出版 2018
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  4. 4
    Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

    Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs 由 Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Steven Lim Cho Pei, Mullin H.C. Yu, Vivian Chin Chin Hui, Joshua Chun Ki Chan, Jeffrey Fong Ting Chau, Marcus C.Y. Chan, Mandy Ho‐Yin Tsang, Wilfred Hing Sang Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel Siu Chun Wong, Rosanna Wong, YL Lau, Gcf Chan, So Lun Lee, Kit San Yeung, Brian Hon‐Yin Chung

    出版 2020
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  5. 5
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome 由 Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    出版 2021
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