Ngā hua rapu - Sarah Dyack

  • E whakaatu ana i te 1 - 14 hua o te 14
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  1. 1
    Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

    Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females mā Nisa Renault, Sarah Dyack, Melanie J. Dobson, Teresa Costa, Wan L. Lam, Wenda Greer

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter

    The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter mā Karin Tuschl, Peter T. Clayton, SM Gospe, G Shamshad, Shahnaz Ibrahim, Pratibha Singhi, RT Ribeiro, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Vivien Price, Ron A. Wevers, PB Mills

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

    Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) mā Melissa T. Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhaş, Sarah Dyack, Alison Eaton, Michal Inbar‐Feigenberg, Heather Howley, Anne Kawamura, M. E. Suzanne Lewis, M. Elizabeth McCready, Tanya N. Nelson, Hilary Vallance

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

    In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients mā Nicolas Sylvius, Zofia T. Bilińska, John P. Veinot, Anna Fidziańska, Pierrette M. Bolongo, Steven S.S. Poon, Pascal McKeown, Rick A. Davies, K.-I. Chan, Antony Tang, Sarah Dyack, Jacek Grzybowski, Witold Rużyłło, Heidi M. McBride, Frédérique Tesson

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

    Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia mā Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin, John Christodoulou, Ee Shien Tan, Mark Fergeson, Sarah Dyack, Ayesha Ahmad, Marisa W. Friederich, Elaine Spector, Geralyn Creadon‐Swindell, Marie Antoinette Redoblado-Hodge, Sommer Gaughan, Casey Burns, Johan L.K. Van Hove

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

    Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man mā Karin Tuschl, Peter T. Clayton, Sídney M. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo Teixeira Ribeiro, Orlando Graziani Póvoas Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea L. Rideout, Kevin Gordon, Ron A. Wevers, W.K. Chong, Philippa B. Mills

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

    Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections mā Dongchuan Guo, Ellen S. Regalado, Darren E. Casteel, Regie Lyn P. Santos‐Cortez, Limin Gong, Jeong Joo Kim, Sarah Dyack, S. Gabrielle Horne, Guijuan Chang, Guillaume Jondeau, Cathérine Boileau, Joseph S. Coselli, Zhenyu Li, Suzanne M. Leal, Jay Shendure, Mark J. Rieder, Michael J. Bamshad, Deborah A. Nickerson, Choel Kim, Dianna M. Milewicz

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

    Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature mā Jan Kazenwadel, Genevieve A. Secker, Yajuan J. Liu, Jill A. Rosenfeld, Robert S. Wildin, Jennifer Cuéllar-Rodríguez, Amy P. Hsu, Sarah Dyack, Conrad V. Fernandez, Chan‐Eng Chong, Milena Babic, Peter Bardy, Akiko Shimamura, Michael Y. Zhang, Tom Walsh, Steven M. Holland, Dennis D. Hickstein, Marshall S. Horwitz, Christopher N Hahn, Hamish S. Scott, Natasha L. Harvey

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

    Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer mā Daniel Gaston, Samantha Hansford, Carla Oliveíra, Mathew Nightingale, Hugo Pinheiro, Christine Macgillivray, Pardeep Kaurah, Andrea L. Rideout, Patricia A. Steele, Gabriela Soares, Weei‐Yuarn Huang, Scott Whitehouse, Sarah Blowers, Marissa A. LeBlanc, Haiyan Jiang, Wenda Greer, Mark E. Samuels, Andrew Orr, Conrad V. Fernandez, Jacek Majewski, Mark D. Ludman, Sarah Dyack, Lynette S. Penney, Christopher R. McMaster, David G. Huntsman, Karen Bedard

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants mā Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy mā D T Burns, Sandra Donkervoort, Juliane Müller, Ellen Knierim, Diana Bharucha‐Goebel, Eissa Faqeih, Stephanie Bell, Abdullah Alfaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S. Alkuraya, Peter B. Kang, Helen Griffin, A. Reghan Foley, Markus Schuelke, Rita Horváth, Carsten G. Bönnemann

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study mā Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham, Monica Lamoureux, Sara D. Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl R. Greenberg, Robin Z. Hayeems, Shailly Jain‐Ghai, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, John J. Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, S. Wafa, Jagdeep S. Walia, Kumanan Wilson, Nataliya Yuskiv, Beth K. Potter

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Family‐centred care interventions for children with chronic conditions: A scoping review

    Family‐centred care interventions for children with chronic conditions: A scoping review mā Andrea Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordán, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Z. Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara D. Khangura, Jennifer MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stöckler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  14. 14
    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures mā Yoko Itō, Keren Carss, Sofia Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis‐Juan, Hans van Bokhoven, Anthony van Essen, Conny M.A. van Ravenswaaij‐Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond, Timothy J. Aitman, David Bennett, Mark J. Caulfield, Patrick F. Chinnery, Daniel P. Gale, Ania Koziell, Taco W. Kuijpers, Michael Laffan, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, Willem H. Ouwehand, David J. Perry, F. Lucy Raymond, Irene Roberts, Kenneth G. C. Smith, Adrian J. Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R. Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Christopher J. Penkett, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew A. Brown, Emma Clement, John Davis, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Amy Frary, Rachel Linger, Jennifer M. Martin, Sofia Papadia, Karola Rehnström, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K. Bariana, Paula Bolton‐Maggs, Elizabeth Chalmers, Janine Collins, Peter Collins, Wendy N. Erber, Tamara Everington, Rémi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Johanna Gebhart, Keith Gomez, Daniel Greene, Andreas Greinacher, Paolo Gresele, Daniel Hart, Johan W. M. Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M. Kelly, Michele P. Lambert, Claire Lentaigne, Ri Liesner, Μichael Μakris, Sarah Mangles, Mary Mathias, Carolyn M. Millar, Andrew Mumford, Paquita Nurden, Jeanette Payne, John Pasi, Kathelijne Peerlinck, Shoshana Revel‐Vilk, Michael Richards

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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