Rezultati pretrage - Linlea Armstrong

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Detaljiziraj rezultate
  1. 1
    Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers

    Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers od Reka Pataky, Linlea Armstrong, Stephen Chia, Andrew J. Coldman, Charmaine Kim‐Sing, Barbara McGillivray, Jenna Scott, Christine Wilson, Stuart Peacock

    Izdano 2013
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  2. 2
    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome od Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E. A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horváth, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

    Izdano 2016
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  3. 3
    Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

    Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options od Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David G. Little, Juha Peltonen, John C. Carey, David S. Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng‐Chun Yang, Gina Agiostratidou, Kim Hunter‐Schaedle, David A. Stevenson

    Izdano 2009
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  4. 4
    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease od Mark I. Rees, Kirsten Harvey, Brian R. Pearce, Seo‐Kyung Chung, Ian Duguid, P K Thomas, Sarah Beatty, Gail E. Graham, Linlea Armstrong, Rita Shiang, Kim Abbott, Sameer M. Zuberi, John B.P. Stephenson, Michael J. Owen, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Trevor G. Smart, Stéphane Supplisson, Victoria L. Harvey

    Izdano 2006
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  5. 5
    Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

    Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas od Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej Poplawski, Alicia Gomes, Piotr Madanecki, Chuanhua Fu, Michael R. Crowley, David K. Crossman, Linlea Armstrong, Dusica Babovic‐Vuksanovic, Amanda Bergner, Jaishri O. Blakeley, Andrea Blumenthal, Molly S. Daniels, Howard Feit, Kathy Gardner, Stephanie Hurst, Christine Kobelka, Chung Lee, Rebecca Nagy, Katherine A. Rauen, John M. Slopis, Pim Suwannarat, Judith A. Westman, Andrea Zanko, Bruce R. Korf, Ludwine Messiaen

    Izdano 2013
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  6. 6
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation od D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    Izdano 2021
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  7. 7
    Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers

    Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers od Rebecca Deyell, Yaoqing Shen, Emma Titmuss, Katherine Dixon, Laura M. Williamson, Erin Pleasance, Jessica Nelson, Sanna Abbasi, Martin Krzywinski, Linlea Armstrong, Melika Bonakdar, Carolyn Ch’ng, Eric Chuah, Christopher Dunham, Alexandra Fok, Martin Jones, Anna F. Lee, Yussanne Ma, Richard A. Moore, Andrew J. Mungall, Karen Mungall, Paul Rogers, Kasmintan A. Schrader, Alice Virani, Kathleen Wee, Sean Young, Yongjun Zhao, Steven J.M. Jones, Janessa Laskin, Marco A. Marra, Shahrad R. Rassekh

    Izdano 2024
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  8. 8
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes od Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    Izdano 2012
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  9. 9
    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations od Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W.M. van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin W. Breuss, Guoling Tian, Nadia Bahi‐Buisson, Alexander Paciorkowski, Alistair T. Pagnamenta, Andrea Wenninger-Weinzierl, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C. Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti‐Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Bürglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A. Aldinger, William B. Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    Izdano 2018
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  10. 10
    Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

    Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes od Catherine Goudie, Leora Witkowski, Noelle Cullinan, Lara Reichman, Ian Schiller, Melissa Tachdjian, Linlea Armstrong, Katherine A Blood, Josée Brossard, Ledia Brunga, Chantel Cacciotti, Kimberly Caswell, Sonia Cellot, M. Clark, Catherine Clinton, Hallie Coltin, Kathleen Felton, Conrad V. Fernandez, Adam Fleming, Noemi Fuentes-Bolanos, Paul Gibson, Ronald Grant, Rawan Hammad, Lynn W. Harrison, Meredith S. Irwin, Donna L. Johnston, Sarah Kane, Lucie Lafay‐Cousin, Irene Lara‐Corrales, Valérie Larouche, Natalie Mathews, M. Stephen Meyn, Orli Michaeli, Renée Perrier, Meghan Pike, Angela Punnett, Vijay Ramaswamy, Jemma Say, Gino R. Somers, Uri Tabori, My Linh Thibodeau, Annie-Kim Toupin, Katherine Tucker, Kalene van Engelen, Stéphanie Vairy, Nicolas Waespe, Meera Warby, Jonathan D. Wasserman, James A. Whitlock, Daniel Sinnett, Nada Jabado, Paul C. Nathan, Adam Shlien, Junne Kamihara, Rebecca Deyell, David S. Ziegler, Kim E. Nichols, Nandini Dendukuri, David Malkin, Anita Villani, William D. Foulkes

    Izdano 2021
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  11. 11
    Exome Sequencing and the Management of Neurometabolic Disorders

    Exome Sequencing and the Management of Neurometabolic Disorders od Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, Gabriella Horváth, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J. Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary Connolly, Jessie M. Cameron, Michelle Demos, Tammie Dewan, Janis M. Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, M. E. Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, André Mattman, Margaret L. McKinnon, Aspasia Michoulas, Daniel L. Metzger, Oluseye A. Ogunbayo, Bojana Rakić, Jacob Rozmus, Peter C. Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti‐Furga, Stuart E. Turvey, Margot I. Van Allen, David S. Wishart, Jiang Wu, John K. Wu, Dimitrios Zafeiriou, Leo A. J. Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna Lehman, Hilary Vallance, Sylvia Stöckler‐Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D.M. van Karnebeek

    Izdano 2016
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  12. 12
    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis... od Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Uhas, Linlea Armstrong, Katherine A. Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, L. Kate Clarkson, Maurizio Clementi, Fanny Cortés, Mitch Cunningham, Daniela D’Agostino, Martin B. Delatycki, M. Cristina Digilio, Laura Dosa, Silvia Esposito, Stéphanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison L. Goetsch, Yael Goldberg, Robert Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley McGregor, Daniela Melis, Nancy J. Mendelsohn, Małgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Enikö K. Pivnick, Dinel Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman‐Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke van den Ende, Samantha A. Schrier Vergano, Stephanie E Wallace, Michael F. Wangler, David D. Weaver, Kaleb Yohay, Elaine H. Zackai, Jonathan Zonana

    Izdano 2019
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