Rezultati - Constance Smith‐Hicks

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  1. 1
    C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B

    C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B od Constance Smith‐Hicks, Kurt C. Sizer, James F. Powers, Arthur S. Tischler, Frank Costantini

    Izdano 2000
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  2. 2
    Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

    Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic od Shilpa D. Kadam, Brennan J. Sullivan, Archita Goyal, Mary E. Blue, Constance Smith‐Hicks

    Izdano 2019
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  3. 3
    Monogenic disorders that mimic the phenotype of Rett syndrome

    Monogenic disorders that mimic the phenotype of Rett syndrome od Siddharth Srivastava, Sonal Desai, Julie S. Cohen, Constance Smith‐Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu

    Izdano 2018
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  4. 4
    Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

    Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome od Constance Smith‐Hicks, Damien Wright, Aisling Kenny, Robert C. Stowe, Maria McCormack, Andrew C. Stanfield, J. Lloyd Holder

    Izdano 2021
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  5. 5
    Activity-Induced Notch Signaling in Neurons Requires Arc/Arg3.1 and Is Essential for Synaptic Plasticity in Hippocampal Networks

    Activity-Induced Notch Signaling in Neurons Requires Arc/Arg3.1 and Is Essential for Synaptic Plasticity in Hippocampal Networks od Lavinia Albéri, Shuxi Liu, Yue Wang, Ramy Badie, Constance Smith‐Hicks, Jing Wu, Tarran J. Pierfelice, Bagrat Abazyan, Mark P. Mattson, Dietmar Kuhl, Mikhail V. Pletnikov, Paul F. Worley, Nicholas Gaiano

    Izdano 2011
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  6. 6
    SRF binding to SRE 6.9 in the Arc promoter is essential for LTD in cultured Purkinje cells

    SRF binding to SRE 6.9 in the Arc promoter is essential for LTD in cultured Purkinje cells od Constance Smith‐Hicks, Bo Xiao, Rongkang Deng, Yi-Fei Ji, Xia Zhao, Jason D. Shepherd, Guido Posern, Dietmar Kuhl, Richard L. Huganir, David D. Ginty, Paul F. Worley, David J. Linden

    Izdano 2010
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  7. 7
    Randomized open-label trial of dextromethorphan in Rett syndrome

    Randomized open-label trial of dextromethorphan in Rett syndrome od Constance Smith‐Hicks, Siddharth Gupta, Joshua B. Ewen, Manisha Hong, Lisa E. Kratz, Richard I. Kelley, Elaine Tierney, Rebecca Vaurio, Genila Bibat, Abanti Sanyal, Gayane Yenokyan, Nga Brereton, Michael V. Johnston, Sakkubai Naidu

    Izdano 2017
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  8. 8
    Elongation Factor 2 and Fragile X Mental Retardation Protein Control the Dynamic Translation of Arc/Arg3.1 Essential for mGluR-LTD

    Elongation Factor 2 and Fragile X Mental Retardation Protein Control the Dynamic Translation of Arc/Arg3.1 Essential for mGluR-LTD od Sung Jin Park, Joo Min Park, Sangmok Kim, Jin-Ah Kim, Jason D. Shepherd, Constance Smith‐Hicks, Shoaib Chowdhury, Walter E. Kaufmann, Dietmar Kuhl, Alexey G. Ryazanov, Richard L. Huganir, David J. Linden, Paul F. Worley

    Izdano 2008
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  9. 9
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders od Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Izdano 2021
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  10. 10
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies od Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Izdano 2019
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  11. 11
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies od Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Izdano 2019
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  12. 12
    Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

    Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations od Sara Zagaglia, C. Selch, Jelena Radić Nišević, Davide Mei, Zuzanna Michalak, Laura Hernandez‐Hernandez, S. Krithika, Aikaterini Vezyroglou, Sophia Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance Smith‐Hicks, Naomi Hino‐Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, A Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

    Izdano 2018
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  13. 13
    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly od Ina Schanze, Jens Bunt, Jonathan W. C. Lim, Denny Schanze, Ryan J. Dean, Mariëlle Alders, Patricia Blanchet, Tania Attié‐Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J. Bridges, Megan T. Cho, William B. Dobyns, Dian Donnai, Jessica Douglas, Dawn Earl, Timothy J. Edwards, Laurence Faivre, Brieana Fregeau, David Geneviève, Marion Gérard, Vincent Gâtinois, Muriel Holder‐Espinasse, Samuel Huth, Kosuke Izumi, Bronwyn Kerr, Elodie Lacaze, Phillis Lakeman, Sonal Mahida, Ghayda Mirzaa, Siân Morgan, C. Nowak, Hilde Peeters, Florence Petit, Daniela T. Pilz, Jacques Puechberty, Eyal Reinstein, Jean‐Baptiste Rivière, Avni Santani, Anouck Schneider, Elliott H. Sherr, Constance Smith‐Hicks, Ilse Wieland, Elaine H. Zackai, Xiaonan Zhao, Richard M. Gronostajski, Martin Zenker, Linda J. Richards

    Izdano 2018
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  14. 14
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction od Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    Izdano 2020
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  15. 15
    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations od Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, Øyvind L. Busk, Philippe M. Campeau, Valeria Capra, Colleen M. Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton‐Smith, Michael J. Bamshad, Dawn Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul‐Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly S. McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda Openshaw, Janice C. Palumbos, Aditi Shah Parikh, Yezmin Perilla‐Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey‐Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung‐Chien Hsieh, Keri Ramsey, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Bert B.A. de Vries, François Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

    Izdano 2024
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