Suchergebnisse - Linda Manwaring

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  1. 1
    Fabry disease in infancy and early childhood: a systematic literature review

    Fabry disease in infancy and early childhood: a systematic literature review von Dawn A. Laney, Dawn Peck, Andrea M. Atherton, Linda Manwaring, Katherine Christensen, Suma P. Shankar, Dorothy K. Grange, William R. Wilcox, Robert J. Hopkin

    Veröffentlicht 2014
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  2. 2
    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions von Ayman W. El‐Hattab, Ping Fang, Weihong Jin, J. R. Hughes, James B. Gibson, Gargi Patel, Dorothy K. Grange, Linda Manwaring, Ankita Patel, P. Stankiewicz, Sau Wai Cheung

    Veröffentlicht 2011
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  3. 3
    The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

    The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results von Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L. Toler, Emily Fassi, Elise Fiala, Sarah M. Brown, Charles W. Goss, Marcia Willing, Dorothy K. Grange, Beth A. Kozel, Marwan Shinawi

    Veröffentlicht 2017
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  4. 4
    Phenotypic characteristics of early Wolfram syndrome

    Phenotypic characteristics of early Wolfram syndrome von Bess A. Marshall, M. Alan Permutt, Alexander Paciorkowski, James Hoekel, Roanne K. Karzon, Jon Wasson, Amy Viehover, Neil H. White, Joshua S. Shimony, Linda Manwaring, Paul F. Austin, Timothy E. Hullar, Tamara Hershey

    Veröffentlicht 2013
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  5. 5
    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females von Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert, Eric Haan, Hilde Van Esch, Maureen Holvoet, Jackie Boyle, Melanie Leffler, Martine Raynaud, Claude Moraine, Hans van Bokhoven, Tjitske Kleefstra, Kimia Kahrizi, Hossein Najmabadi, H‐H Ropers, Mauricio R. Delgado, Deepa Sirsi, Sailaja Golla, Annemarie Sommer, Marguerite Pietryga, Wendy K. Chung, Julia Wynn, Luis Rohena, Erika Bernardo, Damara R. Hamlin, Brian M. Faux, Dorothy K. Grange, Linda Manwaring, John Tolmie, Shelagh Joss, Jan M. Cobben, Floor A.M. Duijkers, Jessica Goehringer, Thomas D. Challman, Friederike Hennig, Utz Fischer, Acadia L. Grimme, Vanessa Suckow, Luciana Musante, J. Nicholl, M Shaw, Suhrid Lodh, Zhiyv Niu, Jill A. Rosenfeld, Paweł Stankiewicz, Thomas J. Jentsch, Jozef Gécz, Michael Field, Vera M. Kalscheuer

    Veröffentlicht 2016
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  6. 6
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction von Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Barbara Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, A.A. Kattentidt-Mouravieva, Fernando Kok, Urania Kotzaeridou, V. Krishnamurthy, Vaidutis Kučinskas, A. Kuechler, Alinoë Lavillaureix, P. Liu, Linda Manwaring, Naomichi Matsumoto, B. Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, C. Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Veröffentlicht 2020
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  7. 7
    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients von Laura Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael March, Divya Nair, Elliott H. Sherr, Brieana Fregeau, Klaas J. Wierenga, Alexandrea Wadley, Grazia M.S. Mancini, Nina Powell‐Hamilton, Jiddeke van de Kamp, Theresa A. Grebe, John Dean, Alison Ross, Heather P. Crawford, Zöe Powis, Megan T. Cho, Marcia Willing, Linda Manwaring, Rachel Schot, Caroline Nava, Alexandra Afenjar, Davor Lessel, Matias Wagner, Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Lüttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, Zuo‐Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Roman Günthner, Heiko Reutter, Boris Keren, Kelly Radtke, Omar Sherbini, Cameron Mrokse, Katherine L. Helbig, Sylvie Odent, Benjamin Cogné, Sandra Mercier, Stéphane Bézieau, Thomas Besnard, Sébastien Küry, Richard Redon, Karit Reinson, Monica H. Wojcik, Katrin Õunap, Pilvi Ilves, A. Micheil Innes, Kristin D. Kernohan, Gregory Costain, M. Stephen Meyn, David Chitayat, Elaine H. Zackai, Anna Lehman, Hilary Kitson, Martin G. Martin, Julián A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Éric Vilain, Jijun Wan, Amanda J. Yoon, Allison Zheng, Elise Brimble, Giovanni Battista Ferrero, Francesca Clementina Radio, Diana Carli, Sabina Barresi, Alfredo Brusco, Marco Tartaglia, Jennifer Muncy Thomas, Luis A. Umaña, Marjan M. Weiss, Garrett Gotway, Kyra E. Stuurman, Michelle L. Thompson, Kirsty McWalter, Constance T. R. M. Stumpel, Servi J.C. Stevens

    Veröffentlicht 2020
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  8. 8
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction von Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt‐Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Veröffentlicht 2021
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