תוצאות חיפוש - 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... מאת Diti Ronvelia, Jaclyn Greenwood, Julia Platt, Simin Hakim, Michael V. Zaragoza

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  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 מאת Austin Bland, Elizabeth A. Harrington, Kyla Dunn, Mitchel Pariani, Julia Platt, Megan E. Grove, Colleen Caleshu

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  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 מאת 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

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
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  4. 4
    Clinical whole-exome sequencing: are we there yet?

    Clinical whole-exome sequencing: are we there yet? מאת 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

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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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 מאת 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

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Carta
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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 מאת 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

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  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 מאת 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

    יצא לאור 2012
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  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 מאת 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

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  9. 9
    Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy

    Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy מאת 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

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  10. 10
    Variant Interpretation for Dilated Cardiomyopathy

    Variant Interpretation for Dilated Cardiomyopathy מאת 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

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:

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