Hasil Pencarian - Chiara Bacchelli

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  1. 1
    Managing Bardet–Biedl Syndrome—Now and in the Future

    Managing Bardet–Biedl Syndrome—Now and in the Future oleh Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L. Beales

    Diterbitkan 2018-02-01
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  2. 2
    Identification and validation of loss of function variants in clinical contexts

    Identification and validation of loss of function variants in clinical contexts oleh Francesco Lescai, Elena Marasco, Chiara Bacchelli, Philip Stanier, Vilma Mantovani, Philip Beales

    Diterbitkan 2014-01-01
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  3. 3
    COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development. oleh Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-Hernandez

    Diterbitkan 2017-03-01
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  4. 4
    Characterisation and validation of insertions and deletions in 173 patient exomes.

    Characterisation and validation of insertions and deletions in 173 patient exomes. oleh Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka

    Diterbitkan 2012-01-01
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