Rezultati pretrage - Anne‐Marie Laberge

  • Prikaz rezultata 1 – 13 od 13
Detaljiziraj rezultate
  1. 1
    Debating Clinical Utility

    Debating Clinical Utility od Wylie Burke, Anne‐Marie Laberge, Nancy Press

    Izdano 2010
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  2. 2
    Unpacking the notion of “serious” genetic conditions: towards implementation in reproductive decision-making?

    Unpacking the notion of “serious” genetic conditions: towards implementation in reproductive decision-making? od Erika Kleiderman, Felicity Boardman, Ainsley J. Newson, Anne‐Marie Laberge, Bartha Maria Knoppers, Vardit Ravitsky

    Izdano 2024
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  3. 3
    The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access

    The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access od Stanislav Birko, Vardit Ravitsky, Charles Dupras, Jessica Le Clerc-Blain, Marie–Ève Lemoine, Aliya Affdal, Hazar Haidar, Anne‐Marie Laberge

    Izdano 2019
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  4. 4
    Points to consider for laboratories reporting results from diagnostic genomic sequencing

    Points to consider for laboratories reporting results from diagnostic genomic sequencing od Danya F. Vears, Karine Sénécal, Angus Clarke, Leigh Jackson, Anne‐Marie Laberge, Luca Lovrečić, Amélie Piton, Koen L.I. van Gassen, Helger G. Yntema, Bartha Maria Knoppers, Pascal Borry

    Izdano 2017
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  5. 5
    Genome-wide profiling of circulating microRNAs in adolescent idiopathic scoliosis and their relation to spinal deformity severity, and disease pathophysiology

    Genome-wide profiling of circulating microRNAs in adolescent idiopathic scoliosis and their relation to spinal deformity severity, and disease pathophysiology od Nasrin Khatami, Iurie Caraus, Mustafizur Rahaman, Evguenia Nepotchatykh, Mohamed Elbakry, Wesam Elremaly, Anita Franco, Marie Beauséjour, Anne‐Marie Laberge, Stefan Parent, Hubert Labelle, Carl‐Éric Aubin, Jean Lachaîne, Alain Moreau

    Izdano 2025
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  6. 6
    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups od Sara D. Khangura, Kylie Tingley, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, Fiona A. Miller, John J. Mitchell, Chitra Prasad, Shabnaz Siddiq, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, Brenda J. Wilson, Kumanan Wilson, Beth K. Potter

    Izdano 2015
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  7. 7
    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study od Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne‐Marie Laberge, Aizeddin A. Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl R. Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter

    Izdano 2016
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  8. 8
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists od Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour

    Izdano 2015
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  9. 9
    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study od 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

    Izdano 2016
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  10. 10
    A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

    A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia od Julie Richer, Hannah Hill, Yu Wang, Min‐Lee Yang, Kristina L. Hunker, Jamie Lane, Susan Blackburn, Dawn M. Coleman, Jonathan L. Eliason, Guillaume Sillon, Daniela D’Agostino, Prasad Jetty, François‐Pierre Mongeon, Anne‐Marie Laberge, Stephen E. Ryan, Natalia Fendrikova-Mahlay, Thais Coutinho, Michael R. Mathis, Matthew Zawistowski, Stanley L. Hazen, Alexander Katz, Heather L. Gornik, Chad M. Brummett, Gonçalo R. Abecasis, Ingrid L. Bergin, James C. Stanley, Jun Z. Li, Santhi K. Ganesh

    Izdano 2020
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  11. 11
    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 od Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne‐Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean‐Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet‐Bianco, Jean‐François Soucy, Anne‐Marie Laberge, Catalina Maftei, Kym M. Boycott, Bernard Brais, Renée‐Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit A. Shalev, Jacques L. Michaud

    Izdano 2015
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  12. 12
    Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

    Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery od Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z. Hayeems, Yvonne Bombard, François Bernier, Michael Brudno, June C. Carroll, Ronald D. Cohn, Irfan A. Dhalla, Jan M. Friedman, Stacy Hewson, Trevor Jamieson, Rita Kodida, Anne‐Marie Laberge, Jordan Lerner‐Ellis, Muhammad Mamdani, Christian R. Marshall, Matthew Osmond, Quỳnh Phạm, Emma Reble, Frank Rudzicz, Emily Seto, Serena Shastri-Estrada, Maureen Smith, Kevin E. Thorpe, Wendy J. Ungar

    Izdano 2023
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  13. 13
    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells od Davor Lessel, Christina Gehbauer, Nuria C. Bramswig, Caroline Schluth–Bolard, Sathish Venkataramanappa, Koen L.I. van Gassen, Maja Hempel, Tobias B. Haack, Anja Barešić, Casie A. Genetti, Mariana F.A. Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas E. Mullen, Hermann-Josef Lüdecke, Antônio Marcondes Lerário, Robin Kobbe, Thorsten Krieger, Bénédicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, María J. Guillen Sacoto, Julie Gauthier, Fadi F. Hamdan, Anne‐Marie Laberge, Philippe M. Campeau, Raymond J. Louie, Sara Cathey, Immo Prinz, Alexander A.L. Jorge, Paulien A. Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M. Strom, Pankaj B. Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch

    Izdano 2018
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