Výsledky vyhledávání - Roger L. Ladda

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  1. 1
    Induction of collagenase secretion in human fibroblast cultures by growth promoting factors.

    Induction of collagenase secretion in human fibroblast cultures by growth promoting factors. Autor Chu Chang Chua, Deborah E. Geiman, George H. Keller, Roger L. Ladda

    Vydáno 1985
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  2. 2
    Long-term persistence of cytomegalovirus genome in cultured human cells of prostatic origin

    Long-term persistence of cytomegalovirus genome in cultured human cells of prostatic origin Autor Fred Rapp, L Géder, Donna M. Murasko, Robert Lausch, Roger L. Ladda, Erich Huang, Mukta M. Webber

    Vydáno 1975
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  3. 3
    The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

    The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease Autor Suhrad G. Banugaria, Sean N. Prater, Yiu-Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, Yuan-Tsong Chen, Amy S. Rosenberg, Priya S. Kishnani

    Vydáno 2011
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  4. 4
    The Frequency of Uniparental Disomy in Prader-Willi Syndrome

    The Frequency of Uniparental Disomy in Prader-Willi Syndrome Autor Maria J. Mascari, Wayne Gottlieb, Peter K. Rogan, Merlin G. Butler, David Waller, John A.L. Armour, Alec J. Jeffreys, Roger L. Ladda, Robert D. Nicholls

    Vydáno 1992
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  5. 5
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria Autor Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Vydáno 2010
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  6. 6
    Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

    Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region Autor Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tianjian Chen, José E. Martínez, Yao‐Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng Fan, Joyce E. Fox, Judith A. Martin, Hoda Abdel‐Hamid, Elizabeth McCracken, Barbara McGillivray, Diane Masser‐Frye, Taosheng Huang

    Vydáno 2012
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  7. 7
    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans Autor Floor A.M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Włodarski, Sébastien Moutton, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute‐Bénéjean, Roger L. Ladda, Susan L. Sell, Ange‐Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

    Vydáno 2019
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  8. 8
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders Autor Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    Vydáno 2018
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  9. 9
    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes Autor Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns

    Vydáno 2013
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  10. 10
    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies Autor Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Débora Romeo Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, María J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger L. Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne H. Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol Saunders, Rhonda E. Schnur, Matěj Škorvánek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

    Vydáno 2023
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  11. 11
    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
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  12. 12
    Redefining the Etiologic Landscape of Cerebellar Malformations

    Redefining the Etiologic Landscape of Cerebellar Malformations Autor 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

    Vydáno 2019
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  13. 13
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus Autor Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    Vydáno 2013
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  14. 14
    Assessment of multiple intrauterine gestations from ovarian stimulation (AMIGOS) trial: baseline characteristics

    Assessment of multiple intrauterine gestations from ovarian stimulation (AMIGOS) trial: baseline characteristics Autor Michael P. Diamond, Richard S. Legro, Christos Coutifaris, Ruben Alvero, Randal D. Robinson, Peter Casson, Gregory M. Christman, Joel W. Ager, Hao Huang, Karl R. Hansen, Valerie L. Baker, Rebecca Usadi, Aimee Seungdamrong, G. Wright Bates, Robert M. Rosen, Daniel Haisonleder, Stephen A. Krawetz, Kurt T. Barnhart, J.C. Trussell, Yufeng Jin, Nanette Santoro, Esther Eisenberg, Heping Zhang, C. Bartlebaugh, William C. Dodson, Stephanie J. Estes, Carol L. Gnatuk, Roger L. Ladda, J. Ober, C. Easton, Ana Teresa Echevarría Hernández, M. Leija, David W. Pierce, Robert G. Brzyski, Awoniyi O. Awonuga, Lídia Cedó, Allison R Cline, Kane E. Collins, Elizabeth E. Puscheck, Monika Singh, M. Yoscovits, K. Lecks, Lucia De Martino, R. Marunich, Alison B. Comfort, M. Crow, Andrea G. Hohmann, S. Mallette, Y.R. Smith, John F. Randolph, Senait Fisseha, M. Ringbloom, Jie Tang, Shawn T. Mason, Norma María, B. Laylor, L. Martinez, Amy Solnica, A. Wojtczuk, M. Rhea, K. Turner, LaTasha B. Craig, Christina Zornes, Miriam Rodríguez Rodríguez, Travis Hunt, Thomas A. Remble, Gloria Cheng, Lauri Green, Nikolaus Lenhart, D. Del Basso, Michael B. Brennan, Hongying Kuang, Yonggang Li, Pasquale Patrizio, Lynn Y. Sakai, Chunhua Song, Hugh S. Taylor, Tracey Thomas, Q. Yan, M. Zhang, C. Lamar, LGD Paolo, David S. Guzick, A. Herring, J. Bruce Redmond, Mark Thomas, Paul J. Turek, Jean Wactawski‐Wende, Robert W. Rebar, Patrick Cato, Vanja Dukić, Vivian Lewis, Peter N. Schlegel, Frank R. Witter

    Vydáno 2015
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  15. 15
    Major depression, antidepressant use, and male and female fertility

    Major depression, antidepressant use, and male and female fertility Autor Emily Evans-Hoeker, Esther Eisenberg, Michael P. Diamond, Richard S. Legro, Ruben Alvero, Christos Coutifaris, Peter R. Casson, Gregory M. Christman, Karl R. Hansen, Heping Zhang, Nanette Santoro, Anne Z. Steiner, C. Bartlebaugh, William C. Dodson, Stephanie J. Estes, Carol L. Gnatuk, Roger L. Ladda, J. Ober, Robert G. Brzyski, C. Easton, Ana Teresa Echevarría Hernández, M. Leija, David W. Pierce, Randal Robinson, Joel W. Ager, Awoniyi O. Awonuga, Lídia Cedó, Allison R Cline, Kristina J. Collins, S. Krawetz, Elizabeth E. Puscheck, Monika Singh, M. Yoscovits, K. Lecks, Lucia De Martino, R. Marunich, Alison B. Comfort, M. Crow, Andrea G. Hohmann, S. Mallette, Y.R. Smith, John F. Randolph, Senait Fisseha, Dana A. Ohl, M. Ringbloom, J. Tang, William M. Bates, S E Mason, LaTasha B. Craig, Christina Zornes, Michael Rodriguez, Travis Hunt, N. DiMaria, Rebecca Usadi, Scott Lucidi, M. Rhea, Vicki M. Baker, Katy Turner, Michael B. Brennan, D. DelBasso, Hao Huang, Yufeng Jin, Yannan Li, Hongying Kuang, Robert Makuch, Pasquale Patrizio, Lynn Y. Sakai, Lawrence David Scahill, Chunhua Song, H Taylor, Tinku Thomas, S. Tsang, Q. Yan, M. Zhang, Daniel J. Haisenleder, J.C. Trussell, B. Laylor, L. Martinez, Amy Solnica, A. Wojtczuk, Aimee Seungdamrong, M.P. Rosen, C. Lamar, Louis V. DePaolo, David S. Guzick, A. Herring, J. Bruce Redmond, Melanie Thomas, Paul J. Turek, Jean Wactawski‐Wende, Robert W. Rebar, Patrick Cato, Vanja Dukić, Vivian Lewis, Peter N. Schlegel, Frank R. Witter

    Vydáno 2018
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  16. 16
    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Autor Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter, A. E. M. van Lint, Mia L. Pras‐Raves, Eric Wever, Francisca Millan, María J. Guillen Sacoto, Amber Begtrup, Mark A. Tarnopolsky, Lauren Brady, Roger L. Ladda, Susan L. Sell, C. Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth J. Perlman, Arlene V. Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A. Gahl, Ellen F. Macnamara, Lynne A. Wolfe, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith, Rebecca C. Spillmann, Jennifer A. Sullivan, Queenie K.‐G. Tan, Sophie Nicole, Pankaj B. Agrawal, Alan H. Beggs, Gerard T. Berry, Lauren C. Briere, Laurel A. Cobban, Matthew Coggins, Cynthia M. Cooper, Elizabeth L. Fieg, Frances A. High, Ingrid A. Holm, Susan Korrick, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Stephen C. Pak, Lance H. Rodan

    Vydáno 2020
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