Resultats de la cerca - 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 per 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

    Publicat 2017
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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 per 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

    Publicat 2020
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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 per 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

    Publicat 2018
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