Resultados da pesquisa - Karen Chong

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  1. 1
    Walking disability in patients with peripheral artery disease is associated with arterial endothelial function

    Walking disability in patients with peripheral artery disease is associated with arterial endothelial function Por S. Marlene Grenon, Karen Chong, Hugh Alley, Emily Nosova, Warren J. Gasper, Jade S. Hiramoto, W. John Boscardin, Christopher Owens

    Publicado em 2014
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  2. 2
    Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

    Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency Por Pierre Sinajon, David Chitayat, Maian Roifman, Syed Wasim, Sérgio Carmona, Greg Ryan, Abdul Noor, Elena Kolomietz, Karen Chong

    Publicado em 2019
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  3. 3
    Diagnostic utility of microarray testing in pregnancy loss

    Diagnostic utility of microarray testing in pregnancy loss Por Jill A. Rosenfeld, MIRIAM E. TUCKER, Luis Escobar, Nicholas J. Neill, Beth S. Torchia, L. D. McDaniel, Ronald Schultz, Karen Chong, David Chitayat

    Publicado em 2015
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  4. 4
    Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

    Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate Por Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Stacie K. Loftus, Karen Chong, James C. Mullikin, Leslie G. Biesecker

    Publicado em 2010
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  5. 5
    Short-term physical inactivity impairs vascular function

    Short-term physical inactivity impairs vascular function Por Emily Nosova, Priscilla K. Yen, Karen Chong, Hugh Alley, Eveline O. Stock, Alex Quinn, Jason Hellmann, Michael S. Conte, Christopher Owens, Matthew Spite, S. Marlene Grenon

    Publicado em 2014
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  6. 6
    Short‐Term, High‐Dose Fish Oil Supplementation Increases the Production of Omega‐3 Fatty Acid–Derived Mediators in Patients With Peripheral Artery Disease (the OMEGA‐PAD I Trial)

    Short‐Term, High‐Dose Fish Oil Supplementation Increases the Production of Omega‐3 Fatty Acid–Derived Mediators in Patients With Peripheral Artery Disease (the OMEGA‐PAD I Trial)... Por S. Marlene Grenon, Christopher Owens, Emily Nosova, Millie Hughes‐Fulford, Hugh Alley, Karen Chong, Sandra Pérez, Priscilla K. Yen, John Boscardin, Jason Hellmann, Matthew Spite, Michael S. Conte

    Publicado em 2015
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  7. 7
    Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

    Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome Por John J. Mitchell, Zubin Punthakee, Bernard Lo, C. Bernard, Karen Chong, Catherine E. Newman, Lola Cartier, Valérie Désilets, E. Cutz, Inger Lise Skog Hansen, P Riley, Constantin Polychronakos

    Publicado em 2004
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  8. 8
    TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

    TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism Por Yoshiro Suzuki, David Chitayat, Hirotake Sawada, Matthew A. Deardorff, Heather M. McLaughlin, Amber Begtrup, Kathryn Millar, Jennifer Harrington, Karen Chong, Maian Roifman, Katheryn Grand, Makoto Tominaga, Fumio Takada, Shirley Shuster, Megumi Obara, H. Mutoh, Reiko Kushima, Gen Nishimura

    Publicado em 2018
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  9. 9
    Diagnosis of <scp><i>TBC1D32</i></scp>‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

    Diagnosis of <scp><i>TBC1D32</i></scp>‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy Por Sarah C. Harris, Karen Chong, David Chitayat, Kelly L. Gilmore, Alexander A.L. Jorge, Bruna Lucheze Freire, Antônio Marcondes Lerário, Patrick Shannon, Heidi Cope, William Gallentine, Gwenal Le Guyader, Frédéric Bilan, Pascaline Létard, Erica E. Davis, Neeta L. Vora

    Publicado em 2023
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  10. 10
    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases Por Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens, Elizabeth M. Heise, Karen Chong, Richard Sidlow, Lauren O’Grady, Inderneel Sahai, Christa Lese Martin, David H. Ledbetter, Scott M. Myers, Kevin J. Mitchell, Kyle Retterer

    Publicado em 2023
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  11. 11
    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 Por 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

    Publicado em 2015
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  12. 12
    Mapping the cellular origin and early evolution of leukemia in Down syndrome

    Mapping the cellular origin and early evolution of leukemia in Down syndrome Por Elvin Wagenblast, Joana Araújo, Olga I. Gan, Sarah K. Cutting, Alex Murison, Gabriela Krivdova, Maria Azkanaz, Jessica McLeod, Sabrina Smith, Blaise Gratton, Sajid A. Marhon, Martino Gabra, Jessie J.F. Medeiros, Sanaz Manteghi, Jian Chen, Michelle Chan‐Seng‐Yue, Laura García‐Prat, Leonardo Salmena, Daniel D. De Carvalho, Sagi Abelson, Mohamed Abdelhaleem, Karen Chong, Maian Roifman, Patrick Shannon, Jean Wang, Johann Hitzler, David Chitayat, John E. Dick, Eric R. Lechman

    Publicado em 2021
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  13. 13
    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome Por Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca Romana Lepri, Elaine Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C. Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Čuturilo, Neda S. Kazemein Jasemi, Radovan Dvorský, Kristin G. Monaghan, Lisa M. Vincent, Hélène Cavé, Alain Verloès, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker

    Publicado em 2019
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  14. 14
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Por Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Publicado em 2024
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  15. 15
    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen Por U. Schwarze, Tim Cundy, Shawna M. Pyott, H. E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen M. Raney, Dusica Babovic‐Vuksanovic, Joan M. Stoler, Ziva Ben‐Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida I. Al‐Aqeel, Mark C. Hannibal, Lucas Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John D. Mahan, Rosemarie Smith, Kwame Anyane‐Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elise Davis, In S. Kim, Mary Ann Weis, David R. Eyre, Peter H. Byers

    Publicado em 2012
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  16. 16
    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria Por Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M.S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid E. Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir

    Publicado em 2021
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