Výsledky vyhledávání - Julia Platt

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  1. 1
    Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

    Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-unc... Autor Diti Ronvelia, Jaclyn Greenwood, Julia Platt, Simin Hakim, Michael V. Zaragoza

    Vydáno 2012
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  2. 2
    Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

    Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience Autor Austin Bland, Elizabeth A. Harrington, Kyla Dunn, Mitchel Pariani, Julia Platt, Megan E. Grove, Colleen Caleshu

    Vydáno 2017
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  3. 3
    Genotype–phenotype studies of <scp>VCP</scp>‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

    Genotype–phenotype studies of <scp>VCP</scp>‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia Autor SG Mehta, Manaswitha Khare, R. Ramani, GDJ Watts, Mariella Simon, KE Osann, Sandra Donkervoort, Eric Dec, Angèle Nalbandian, Julia Platt, Marzia Pasquali, A Wang, Tahseen Mozaffar, CD Smith, VE Kimonis

    Vydáno 2012
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  4. 4
    Clinical whole-exome sequencing: are we there yet?

    Clinical whole-exome sequencing: are we there yet? Autor Paldeep S. Atwal, Marie-Louise Brennan, Rachel Cox, Michael Niaki, Julia Platt, Margaret Homeyer, Andrea Kwan, Sylvie Parkin, Susan Schelley, Leah Slattery, Yael Wilnai, Jonathan A. Bernstein, Gregory M. Enns, Louanne Hudgins

    Vydáno 2014
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  5. 5
    Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation

    Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation Autor William R. Goodyer, Kyla Dunn, Colleen Caleshu, Mary Jo Jackson, Jennifer Wylie, Tia Moscarello, Julia Platt, Chloe M. Reuter, Allysonne Smith, Anthony Trela, Scott R. Ceresnak, Kara S. Motonaga, Euan A. Ashley, Phillip C. Yang, Anne M. Dubin, Marco Pérez

    Vydáno 2019
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  6. 6
    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup Autor Kevin A. Strauss, Lauren DuBiner, Mariella Simon, Michael V. Zaragoza, Partho P. Sengupta, Peng Li, Navneet Narula, Sandra Dreike, Julia Platt, Vincent Procaccio, Xilma R. Ortiz‐González, Erik G. Puffenberger, Richard I. Kelley, D. Holmes Morton, Jagat Narula, Douglas C. Wallace

    Vydáno 2013
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  7. 7
    Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

    Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans Autor Fuyun Ji, Mark S. Sharpley, Olga Derbeneva, Leonardo Scherer Alves, Pin Qian, Yaoli Wang, Dimitra Chalkia, Maria Lvova, Jiancheng Xu, Wei Yao, Mariella Simon, Julia Platt, Shiqin Xu, Alessia Angelin, Antonio Dávila, Taosheng Huang, Ping H. Wang, Lee‐Ming Chuang, Lorna G. Moore, Guisheng Qian, Douglas C. Wallace

    Vydáno 2012
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  8. 8
    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway Autor Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan A. Bernstein, Mena Scavina, Rhonda S. Walter, Audrey Bibb, Melanie A. Jones, Madhuri Hegde, Brett H. Graham, Anna C. Need, Angélica Oviedo, Christian P. Schaaf, Seán Boyle, Atul J. Butte, Rong Chen, Michael J. Clark, Rajini Haraksingh, Tina M. Cowan, Ping He, Sylvie Langlois, Huda Y. Zoghbi, M Snyder, Richard A. Gibbs, Hudson H. Freeze, David B. Goldstein

    Vydáno 2014
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  9. 9
    Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy

    Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy Autor Daniel D. Kinnamon, Ana Morales, Deborah J. Bowen, Wylie Burke, Ray E. Hershberger, Ray E. Hershberger, Daniel D. Kinnamon, Ana Morales, Julie M. Gastier‐Foster, Wylie Burke, Deborah J. Bowen, Deborah A. Nickerson, Michael O. Dorschner, Garrie J. Haas, William T. Abraham, Philip F. Binkley, Ayesha Hasan, Jennifer Host, Brent C. Lampert, Sakima A. Smith, Gordon S. Huggins, David DeNofrio, Michael S. Kiernan, Daniel Fishbein, Richard K. Cheng, Todd Dardas, Wayne C. Levy, Claudius Mahr, Sofia Carolina Masri, April Stempien‐Otero, Stephen S. Gottlieb, Matthew T. Wheeler, Euan A. Ashley, Julia Platt, Mark Hofmeyer, W.H. Wilson Tang, Randall Starling, Rocio Moran, Anjali Owens, Kenneth Marguilies, Thomas P. Cappola, Lee R. Goldberg, Susan C. Brozena, J. Eduardo Rame, Rhondalyn C. McLean, Charles K. Moore, Matthew deShazo, Robert C. Long, Francisco Jimenez Carcamo, Hakop Hrachian-Haftevani, Barry Trachtenberg, G. Ashrith, Arvind Bhimarahj, Jerry D. Estep, Nancy K. Sweitzer, Carlos D. Bustamante, Gail P. Jarvik, Eden R. Martin, Heidi L. Rehm, Patrice Desvigne‐Nickens, James Troendle, Yi‐Ping Fu, Lucia A. Hindorff

    Vydáno 2017
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  10. 10
    Variant Interpretation for Dilated Cardiomyopathy

    Variant Interpretation for Dilated Cardiomyopathy Autor Ana Morales, Daniel D. Kinnamon, Elizabeth Jordan, Julia Platt, Matteo Vatta, Michael O. Dorschner, Carl A. Starkey, Jonathan O. Mead, Tomohiko Ai, Wylie Burke, Julie M. Gastier‐Foster, Gail P. Jarvik, Heidi L. Rehm, Deborah A. Nickerson, Ray E. Hershberger, Deborah J. Bowen, Garrie J. Haas, William T. Abraham, Philip F. Binkley, Ayesha Hasan, Jennifer Host, Brent C. Lampert, Sakima A. Smith, Gordon S. Huggins, David DeNofrio, Michael S. Kiernan, Daniel Fishbein, Richard K. Cheng, Todd Dardas, Wayne C. Levy, Claudius Mahr, Sofia Carolina Masri, April Stempien‐Otero, Stephen S. Gottlieb, Matthew T. Wheeler, Euan A. Ashley, Mark Hofmeyer, W.H. Wilson Tang, Randall Starling, Anjali Owens, Kenneth Marguilies, Thomas P. Cappola, Lee R. Goldberg, Rhondalyn C. McLean, Charles K. Moore, Robert C. Long, Javier Jimenez Carcamo, Barry Trachtenberg, G. Ashrith, Arvind Bhimarahj, Nancy K. Sweitzer, Palak Shah, Brian D. Lowes, Douglas Stoller, Frank W. Smart, Alanna A. Morris, Jane E. Wilcox, Stephen Pan, Gregory A. Ewald, Keith D. Aaronson, Jessica Wang, Salpy V. Pamboukian, Daniel P. Judge, E. Kransdorf, Sonia Garg, Patrice Desvigne Nickens, James Troendle, Yi‐Ping Fu, Lucia A. Hindorff

    Vydáno 2020
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