Ngā hua rapu - Rachel Stapleton

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  1. 1
    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases mā Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review mā Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Dean Phelan, Lynn Pais, Susan M. White, Sebastian Lunke, Tiong Yang Tan

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    Meeting the challenges of implementing rapid genomic testing in acute pediatric care

    Meeting the challenges of implementing rapid genomic testing in acute pediatric care mā Zornitza Stark, Sebastian Lunke, Gemma R. Brett, Natalie B. Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean Phelan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Matthew F. Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R. Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Yang Tan, Clara Gaff, Susan M. White

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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