Resultados de procura - Shirley McQuaid

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  1. 1
    EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

    EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders por Valérie Biancalana, Dieter Glaeser, Shirley McQuaid, Peter Steinbach

    Publicado 2014
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  2. 2
    Differences in presentation and progression between severe FIC1 and BSEP deficiencies

    Differences in presentation and progression between severe FIC1 and BSEP deficiencies por Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, Piotr Czubkowski, Karan M. Emerick, Anthony Antoniou, Catherine Wanty, Björn Fischler, Emmanuel Jacquemin, Sami Wali, Samra Blanchard, Inge‐Merete Nielsen, Billy Bourke, Shirley McQuaid, Florence Lacaille, Jane A. Byrne, Albertien M. van Eerde, Kaija-Leena Kolho, Leo W. J. Klomp, Roderick H.J. Houwen, Peter Bacchetti, Steven J. Lobritto, Vera Hupertz, Patricia McClean, Giorgina Mieli‐Vergani, Benjamin L. Shneider, Antal Németh, Étienne Sokal, Nelson B. Freimer, A. S. Knisely, Philip Rosenthal, Peter F. Whitington, Joanna Pawłowska, Richard J. Thompson, Laura N. Bull

    Publicado 2010
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  3. 3
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data por Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Publicado 2020
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  4. 4
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders por Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    Publicado 2021
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