Kết quả tìm kiếm - Anna Hurst

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  1. 1
    THE BENT BACK OF SOLDIERS

    THE BENT BACK OF SOLDIERS Bằng Anna Hurst

    Được phát hành 1918
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  2. 2
    Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

    Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome Bằng Matheus Augusto Araújo Castro, Juliana Heather Vedovato dos Santos, Rachel Sayuri Honjo, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Anna Hurst, Lynn P. Chorich, Lawrence C. Layman, Chong Ae Kim, Hyung‐Goo Kim

    Được phát hành 2021
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    Artigo
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  3. 3
    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology Bằng Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard

    Được phát hành 2022
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  4. 4
    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Bằng Lina Liang, Xia Li, Sébastien Moutton, Samantha A. Schrier Vergano, Benjamin Cogné, Anne de Saint Martin, Anna Hurst, Yushuang Hu, Olaf A. Bodamer, Julien Thévenon, Christina Hung, Bertrand Isidor, Bénédicte Gérard, A. Rega, Sophie Nambot, Daphné Lehalle, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Stéphane Bézieau, Leon Dure, Daniel Helbling, David Bick, Chengqi Xu, Qiuyun Chen, Grazia M.S. Mancini, Antonio Vitobello, Qing K. Wang

    Được phát hành 2019
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  5. 5
    Genome sequencing as a first-line diagnostic test for hospitalized infants

    Genome sequencing as a first-line diagnostic test for hospitalized infants Bằng Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, Stacy W. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick‐Esteve, Anna Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper

    Được phát hành 2021
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  6. 6
    Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

    Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients Bằng Carole Le Coz, David N. Nguyen, Chun Su, Brian E. Nolan, Amanda V. Albrecht, Suela Xhani, Di Sun, Benjamin Demaree, Piyush Pillarisetti, Caroline Khanna, Francis Wright, Peixin Amy Chen, Samuel Yoon, Amy L. Stiegler, Kelly Maurer, James Garifallou, Amy L. Rymaszewski, Steven H. Kroft, Timothy S. Olson, Alix E. Seif, Gerald Wertheim, Struan F.A. Grant, Linda T. Vo, Jennifer M. Puck, Kathleen E. Sullivan, John M. Routes, В. В. Захарова, Anna Shcherbina, Anna Mukhinа, Natasha L. Rudy, Anna Hurst, T. Prescott Atkinson, Titus J. Boggon, Hákon Hákonarson, Adam R. Abate, Joud Hajjar, Sarah K. Nicholas, James R. Lupski, James Verbsky, Iván K. Chinn, Michael V. Gonzalez, Andrew D. Wells, Alex Marson, Gregory M.K. Poon, Neil Romberg

    Được phát hành 2021
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  7. 7
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder Bằng Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Được phát hành 2021
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  8. 8
    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice Bằng Dianalee McKnight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Μ. Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos‐Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman‐Englert, Rebecca J. Levy, Venu Parachuri, Guillermo Lay‐Son, David José Dávila‐Ortiz de Montellano, Miguel Ángel Ramírez-García, Edmar Benitez-Alonso, Julie Ziobro, Adela Chiriţă-Emandi, Têmis Maria Félix, Dianne Kulasa-Luke, André Mégarbané, Shefali Karkare, Sarah Chagnon, Jennifer Humberson, Melissa Assaf, Sebastián Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, О.О. Miroshnikov, Britton Zuccarelli, Louise Amlie‐Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan Candee, Caleb Bupp, Kristen Park, Eric Muller, Pamela J. Lupo, Robert C. Pedersen, Amir Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa Kellogg, Evelyn G. Lora, Robert P. Carson, V.O. Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, T. Stetsenko, Milagros Dueñas, Joseph Trasmonte, Rebecca Burke, Anna Hurst, Douglas M. Smith, Lauren Massingham, Laura Rosa Pisani, Carrie E. Costin, Betsy Ostrander, Francis Filloux, Amitha Ananth, Ismail Mohamed, Alla Nechai, Jasmin M. Dao, Michael Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela M. Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha

    Được phát hành 2022
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  9. 9
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Bằng Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    Được phát hành 2023
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  10. 10
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Bằng Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    Được phát hành 2023
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  11. 11
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles Bằng Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Được phát hành 2024
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  12. 12
    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Bằng Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina‐Gómez, Rosalie Sterenborg, Hao Wang, Anna Dolcetta‐Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abacı, Erica L T van den Akker, Gautam Ambegaonkar, Christine M. Armour, I. Bacos, Priyanka Bakhtiani, Diana Bârcă, Andrew J. Bauer, Sjoerd A.A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet van der Spek, I.F.M. de Coo, R. Coutant, Dana Craiu, Patricia Crock, Christian de Goede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna Hurst, Tony Huynh, Amber Isaza, Anna Kłosowska, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen LaFranchi, Amy Lawson‐Yuen, Jan Lebl, Selmar Leeuwenburgh, M Linder-Lucht, Amelia Martí, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Kenneth McCormick, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Lindsey Nicol, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano de Oliveira Poswar, Christina Reinauer, Klára Roženková, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A.M. Stals, Merel T Stegenga, Athanasia Stoupa

    Được phát hành 2025
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