Canlyniadau Chwilio - Kimberly Amburgey

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  1. 1
    Prevalence of congenital myopathies in a representative pediatric united states population

    Prevalence of congenital myopathies in a representative pediatric united states population gan Kimberly Amburgey, Nancy McNamara, Lindsey R. Bennett, Michael E. McCormick, Gyula Acsádi, James J. Dowling

    Cyhoeddwyd 2011
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  2. 2
    A natural history study of X-linked myotubular myopathy

    A natural history study of X-linked myotubular myopathy gan Kimberly Amburgey, Etsuko Tsuchiya, S. de Chastonay, Michael Glueck, Rachel Alverez, Cam-Tu Nguyen, Anne Rutkowski, Joseph E. Hornyak, Alan H. Beggs, James J. Dowling

    Cyhoeddwyd 2017
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  3. 3
    TRPM7 Is Required within Zebrafish Sensory Neurons for the Activation of Touch-Evoked Escape Behaviors

    TRPM7 Is Required within Zebrafish Sensory Neurons for the Activation of Touch-Evoked Escape Behaviors gan Sean E. Low, Kimberly Amburgey, Eric J. Horstick, Jeremy W. Linsley, Shawn M. Sprague, Wilson W. Cui, Weibin Zhou, Hiromi Hirata, Louis Saint‐Amant, Richard I. Hume, John Y. Kuwada

    Cyhoeddwyd 2011
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  4. 4
    Approach to the diagnosis of congenital myopathies

    Approach to the diagnosis of congenital myopathies gan Kathryn N. North, Ching H. Wang, Nigel F. Clarke, Heinz Jungbluth, Mariz Vainzof, James J. Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H. Beggs, Caroline A. Sewry, Nigel G. Laing, C. Bönnemann

    Cyhoeddwyd 2013
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  5. 5
    Genotype-phenotype correlations in recessive RYR1-related myopathies

    Genotype-phenotype correlations in recessive RYR1-related myopathies gan Kimberly Amburgey, Angela M. Bailey, J.H. Hwang, Mark A. Tarnopolsky, Carsten G. Bönnemann, Līvija Medne, Katherine D. Mathews, James J. Collins, Jasper R. Daube, Gregory P. Wellman, Brian C. Callaghan, Nigel F. Clarke, James J. Dowling

    Cyhoeddwyd 2013
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  6. 6
    A Cross-Sectional Study of Nemaline Myopathy

    A Cross-Sectional Study of Nemaline Myopathy gan Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H. Beggs, Carsten G. Bönnemann, Michael Brudno, Andrei Constantinescu, Jahannaz Dastgir, Mamadou Alpha Diallo, Casie A. Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal Jain, Michael W. Lawlor, Oscar H. Meyer, Leslie Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H. Wang, James J. Dowling

    Cyhoeddwyd 2021
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  7. 7
    Consensus Statement on Standard of Care for Congenital Myopathies

    Consensus Statement on Standard of Care for Congenital Myopathies gan Ching H. Wang, James J. Dowling, Kathryn N. North, Mary Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali E. Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, C. Bönnemann, Nigel F. Clarke, Anne M. Connolly, Brigitte Estournet-Mathiaud, Dominic A. Fitzgerald, Julaine Florence, Richard Gee, Juliana Gurgel‐Giannetti, Allan M. Glanzman, Brittany Hofmeister, Heinz Jungbluth, Anastassios C. Koumbourlis, Nigel G. Laing, Marion Main, Leslie Morrison, Craig Munns, Kristy Rose, Pamela M. Schuler, C. Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan

    Cyhoeddwyd 2012
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  8. 8
    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy gan Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt‐Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynn M Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Luis F Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Saga Elise Eiset, Paul R. Mark, Mercelo R Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza LP Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rie szlig, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie A. Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan

    Cyhoeddwyd 2019
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  9. 9
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy gan Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Saga Elise Eiset, Luis Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Paul R. Mark, Marcelo Rodrigues Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones

    Cyhoeddwyd 2019
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  10. 10
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome gan Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Cyhoeddwyd 2022
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