Rezultati pretrage - David B. Everman

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Detaljiziraj rezultate
  1. 1
    Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

    Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update od Fiorella Gurrieri, David B. Everman

    Izdano 2013
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  2. 2
    Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

    Neurobiologically-based treatments in Rett syndrome: opportunities and challenges od Walter E. Kaufmann, Jennifer L. Stallworth, David B. Everman, Steven A. Skinner

    Izdano 2016
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  3. 3
    A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes

    A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes od David C. Gershlick, Morié Ishida, Julie R. Jones, Allison Bellomo, Juan S. Bonifacino, David B. Everman

    Izdano 2018
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  4. 4
    Functional characterization of tissue-specific enhancers in the DLX5/6 locus

    Functional characterization of tissue-specific enhancers in the DLX5/6 locus od Ramon Y. Birnbaum, David B. Everman, Karl K. Murphy, Fiorella Gurrieri, Charles E. Schwartz, Nadav Ahituv

    Izdano 2012
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  5. 5
    RIT1 oncoproteins escape LZTR1-mediated proteolysis

    RIT1 oncoproteins escape LZTR1-mediated proteolysis od Pau Castel, Alice Cheng, Antonio Cuevas-Navarro, David B. Everman, Alex G. Papageorge, Dhirendra K. Simanshu, Alexandra Tankka, Jacqueline Galeas, Anatoly Urisman, Frank McCormick

    Izdano 2019
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  6. 6
    MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice

    MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice od Adam J. Harrington, Catherine Bridges, Stefano Berto, Kayla Blankenship, Jennifer Y. Cho, Ahlem Assali, Benjamin M. Siemsen, Hannah W. Moore, Tsvetkov Ea, Acadia Thielking, Geneviève Konopka, David B. Everman, Michael D. Scofield, Steven A. Skinner, Christopher W. Cowan

    Izdano 2020
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  7. 7
    Coding exons function as tissue-specific enhancers of nearby genes

    Coding exons function as tissue-specific enhancers of nearby genes od Ramon Y. Birnbaum, E. Josephine Clowney, Orly Agamy, Mee J. Kim, Jingjing Zhao, Takayuki Yamanaka, Zachary Pappalardo, Shoa L. Clarke, Aaron M. Wenger, Loan Nguyen, Fiorella Gurrieri, David B. Everman, Charles E. Schwartz, Ohad S. Birk, Gill Bejerano, Stavros Lomvardas, Nadav Ahituv

    Izdano 2012
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  8. 8
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia od Jessica L. Zambonin, Allison Bellomo, Hilla Ben‐Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Kernohan, Mary Kay Koenig, Matthew A. Lines, Elizabeth E. Palmer, Randal Richardson, Reeval Segel, Mark A. Tarnopolsky, Jason Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding‐Byth, Kym M. Boycott

    Izdano 2017
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  9. 9
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome od Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković

    Izdano 2019
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  10. 10
    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities od Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying Zou, Wen‐Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steve Skinner, R. Curtis Rogers, David B. Everman, E. Boyd, Caley Tapp, Sureni V. Mullegama, Debra Keelean‐Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara R. DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

    Izdano 2013
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  11. 11
    Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

    Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis od John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho‐Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J. Zand, Audrey M. Bernstein, Sandra K. Masur, Chong Ae Kim, F. George Otieno, Cuiping Hou, Nada Abdelmagid, Ben Tweddale, Denise W. Metry, Jean‐Christophe Fournet, Eniko Papp, Elizabeth McPherson, Carrie Zabel, Guy Vaksmann, Cyril Morisot, Brendan J. Keating, Patrick Sleiman, Jeffrey A. Cleveland, David B. Everman, Elaine H. Zackai, Hákon Hákonarson

    Izdano 2013
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  12. 12
    Mutations in the Human<i>UBR1</i>Gene and the Associated Phenotypic Spectrum

    Mutations in the Human<i>UBR1</i>Gene and the Associated Phenotypic Spectrum od Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie‐Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan M. Cobben, Lynette A. Gillis, Amy Shealy, Charu Deshpande, Bita Bozorgmehr, David B. Everman, Eva‐Lena Stattin, Jan Liebelt, Klaus‐Michael Keller, Débora Romeo Bertola, Clara van Karnebeek, Carsten Bergmann, Zhifeng Liu, Gesche Düker, Nima Rezaei, Fowzan S. Alkuraya, Gönül Oğur, Abdullah Alrajoudi, Carlos Venegas-Vega, Nienke E. Verbeek, Erick Richmond, Özgür Kırbıyık, Prajnya Ranganath, Ankur Singh, Koumudi Godbole, Fouad Ali, Crésio Alves, Julia Mayerle, Markus M. Lerch, Heiko Witt, Martin Zenker

    Izdano 2014
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  13. 13
    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants od Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

    Izdano 2018
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  14. 14
    A Mosaic Activating Mutation in<i>AKT1</i>Associated with the Proteus Syndrome

    A Mosaic Activating Mutation in<i>AKT1</i>Associated with the Proteus Syndrome od Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, Jennifer J. Johnston, Erin Finn, Kathryn F. Peters, Joyce Turner, Jennifer L. Cannons, David Bick, Laurel C. Blakemore, Catherine Blumhorst, Knut Brockmann, Peter Calder, Natasha Cherman, Matthew A. Deardorff, David B. Everman, Gretchen Golas, Robert M. Greenstein, B. Maya Kato, Kim M. Keppler‐Noreuil, Sergei A. Kuznetsov, Richard T. Miyamoto, Kurt D. Newman, David Ng, Kevin O’Brien, Steven Rothenberg, Douglas J. Schwartzentruber, Virender K. Singhal, Roberto Tirabosco, Joseph Upton, Shlomo Wientroub, Elaine H. Zackai, Kimberly Hoag, Tracey Whitewood-Neal, Pamela Gehron Robey, Pamela L. Schwartzberg, Thomas N. Darling, Laura L. Tosi, James C. Mullikin, Leslie G. Biesecker

    Izdano 2011
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  15. 15
    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size od Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller‐Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quēlin, Rhonda E. Schnur, Brooke Smith, Jonathan B. Strober, Susan Walker, Mathew Wallis, Laurence E. Walsh, Sandra Yang, Ryan K. C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez‐Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Abou Jamra

    Izdano 2019
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  16. 16
    Redefining the Etiologic Landscape of Cerebellar Malformations

    Redefining the Etiologic Landscape of Cerebellar Malformations od Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda Mirzaa, James T. Bennett, Alexander Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Parthiv Haldipur, Chi Vicky Cheng, Sarah Collins, Kaylee Park, Jordan Zeiger, Lynne M. Overmann, Fowzan S. Alkuraya, Leslie G. Biesecker, Stephen R. Braddock, Sara Cathey, Megan T. Cho, Brian Hon‐Yin Chung, David B. Everman, Yuri A. Zárate, Julie R. Jones, Charles E. Schwartz, Amy Goldstein, Robert J. Hopkin, Ian D. Krantz, Roger L. Ladda, Kathleen A. Leppig, Barbara McGillivray, Susan L. Sell, Katherine Wusik, Joseph G. Gleeson, Deborah A. Nickerson, Michael J. Bamshad, Dianne Gerrelli, Steven Lisgo, Georg Seelig, Gisele E. Ishak, A. James Barkovich, Cynthia J. Curry, Ian Glass, Kathleen J. Millen, Dan Doherty, William B. Dobyns

    Izdano 2019
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  17. 17
    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 od Margaret J. McMillin, Anita Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Izdano 2014
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  18. 18
    Cornelia de Lange syndrome in diverse populations

    Cornelia de Lange syndrome in diverse populations od Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Ëben Badoe, Meow‐Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, André Mégarbané, Shubha R. Phadke, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza, Léon Mutesa, Cedrik Tekendo‐Ngongang, Ambroise Wonkam, Karen Fieggen, Letícia Cassimiro Batista, Danilo Moretti‐Ferreira, Roger E. Stevenson, Eloise J. Prijoles, David B. Everman, Kate B. Clarkson, Jessica Worthington, Virginia Kimonis, Fuki M. Hisama, Carol A. Crowe, Paul Wong, Kisha Johnson, Robin D. Clark, Lynne M. Bird, Diane Masser‐Frye, Timothy J. McDonald, Patrick J. Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane‐Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit A. Shalev, Victoria Mok Siu, Neerja Gupta, Madhulika Kabra, Angus Ades, Holly Dubbs, Sarah E. Raible, Maninder Kaur, Emanuela Salzano, Laird S. Jackson, Matthew A. Deardorff, Antonie D. Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D. Krantz

    Izdano 2019
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  19. 19
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder od 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

    Izdano 2021
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  20. 20
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder od 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

    Izdano 2023
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