Výsledky vyhledávání - Maria Descartes

  • Zobrazuji výsledky 1 - 8 z 8
Upřesnit hledání
  1. 1
    The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

    The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system Autor Fady M. Mikhail, Rachel D. Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk, S. Lane Rutledge, Nathaniel H. Robin, Maria Descartes, Andrew J. Carroll

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

    Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age Autor Christina Lampe, Andrea M. Atherton, Barbara K. Burton, Maria Descartes, Roberto Giugliani, Dafne Dain Gandelman Horovitz, Sandra Obikawa Kyosen, Tatiana Sá Pacheco Carneiro Magalhães, Ana María Martins, Nancy J. Mendelsohn, Joseph Muenzer, Laurie D. Smith

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing Autor Joanna Wiszniewska, Weimin Bi, Chad A. Shaw, Paweł Stankiewicz, Sung‐Hae Kang, Amber N. Pursley, Seema R. Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Hans-Georg O. Bock, Maria Descartes, Frank J. Probst, Fernando Scaglia, Arthur L. Beaudet, James R. Lupski, Christine M. Eng, S.W. Cheung, Carlos A. Bacino, Ankita Patel

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

    Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Autor Robert Lyle, Frédérique Béna, Sarantis Gagos, Corinne Gehrig, Gipsy Lopez, Albert Schinzel, James Lespinasse, Armand Bottani, Sophie Dahoun, Laurence Taine, Martine Doco‐Fenzy, Pascale Cornillet‐Lefèbvre, Anna Pelet, Stanislas Lyonnet, Annick Toutain, Laurence Colleaux, Jürgen Horst, Ingo Kennerknecht, Nobuaki Wakamatsu, Maria Descartes, Judy Franklin, L. Florentin-Arar, Sophia Kitsiou, Emilie Ait‐Yahya, Maher Costantine, Pierre‐Marie Sinet, Jean Maurice Delabar, Stylianos E. Antonarakis

    Vydáno 2008
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

    Disruption of Neurexin 1 Associated with Autism Spectrum Disorder Autor Hyung‐Goo Kim, Shotaro Kishikawa, Anne W. Higgins, Ihn-Sik Seong, Diana Donovan, Yiping Shen, Eric Lally, Lauren A. Weiss, Juliane Najm, Kerstin Kutsche, Maria Descartes, Lynn Holt, Stephen R. Braddock, Robin Troxell, Lee M. Kaplan, Fred R. Volkmar, Ami Klin, Katherine Tsatsanis, D. James Harris, Ilse Noens, David L. Pauls, Mark J. Daly, Marcy E. MacDonald, Cynthia C. Morton, Bradley J. Quade, James F. Gusella

    Vydáno 2008
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features Autor Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer

    Vydáno 2012
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

    Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance Autor Max A. Tischfield, Hagit Baris, Chen Wu, Guenther Rudolph, Lionel Van Maldergem, Wei He, Wai‐Man Chan, Caroline Andrews, Joseph L. Demer, Richard L. Robertson, David A. Mackey, Jonathan B. Ruddle, Thomas D. Bird, Irène Gottlob, Christina Pieh, Elias I. Traboulsi, Scott L. Pomeroy, David G. Hunter, Janet S. Soul, Anna Newlin, Louise J. Sabol, Edward J. Doherty, Clara E. de Uzcátegui, Nicolas Uzcategui, Mary Louise Z. Collins, Emin Cumhur Şener, Bettina Wabbels, Heide Hellebrand, Thomas Meitinger, Teresa de Berardinis, Adriano Magli, Costantino Schiavi, Marco Pastore-Trossello, Feray Koc, Agnes Wong, Alex V. Levin, Michael T. Geraghty, Maria Descartes, Maree Flaherty, Robyn V. Jamieson, Hans Ulrik Møller, I. Meuthen, David F. Callen, Janet Kerwin, Susan Lindsay, Alfons Meindl, Mohan L. Gupta, David Pellman, Elizabeth C. Engle

    Vydáno 2010
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules Autor Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David Parry, Peter Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares‐Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew V. Rogers, Jennifer Wambach, D.J. Wegner, Anne B. Fulton, Margaret A. Kenna, Margaret Rosenfeld, Ingrid A. Holm, Alan J. Quigley, Emma A. Hall, Laura C. Murphy, Diane Cassidy, Alex von Kriegsheim, Jean‐François Papon, Laurent Pasquier, Marlène Murris, James D. Chalmers, Claire Hogg, Kenneth Macleod, Don S. Urquhart, Stefan Unger, Timothy J. Aitman, Serge Amselem, Margaret W. Leigh, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison, Alan Brown, Joseph A. Marsh, Julie P. I. Welburn, Shih-Chieh Ti, Amjad Horani, Jean‐Michel Rozet, Isabelle Perrault, Pleasantine Mill

    Vydáno 2024
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: