Výsledky vyhledávání - Christopher Cunniff

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  1. 1
    Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition

    Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition Autor Christopher Cunniff, Jennifer A. Bassetti, Nathan A. Ellis

    Vydáno 2016
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  2. 2
    Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins

    Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins Autor H. Stefan Bracha, E. Fuller Torrey, Irving I. Gottesman, Llewellyn B. Bigelow, Christopher Cunniff

    Vydáno 1992
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  3. 3
    Elements of morphology: Standard terminology for the head and face

    Elements of morphology: Standard terminology for the head and face Autor Judith Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Maximilian Muenke, Giovanni Neri

    Vydáno 2009
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  4. 4
    Fluconazole use and birth defects in the National Birth Defects Prevention Study

    Fluconazole use and birth defects in the National Birth Defects Prevention Study Autor Meredith M. Howley, Tonia C. Carter, Marilyn L. Browne, Paul A. Romitti, Christopher Cunniff, Charlotte M. Druschel

    Vydáno 2015
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  5. 5
    Rapid genotype imputation from sequence with reference panels

    Rapid genotype imputation from sequence with reference panels Autor R. W. Davies, Marek Kučka, Dingwen Su, Sinan Shi, Maeve Flanagan, Christopher Cunniff, Yingguang Frank Chan, Simon Myers

    Vydáno 2021
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  6. 6
    Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy

    Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy Autor Rebecca Latimer, Natalie Street, Kristin Caspers Conway, Kathy James, Christopher Cunniff, Joyce Oleszek, Deborah Fox, Emma Ciafaloni, Christina Westfield, Pangaja Paramsothy

    Vydáno 2017
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  7. 7
    Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network

    Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network Autor Amy E. Kalkbrenner, Joe M. Braun, Maureen S. Durkin, Matthew J. Maenner, Christopher Cunniff, Li-Ching Lee, Sydney Pettygrove, Joyce S. Nicholas, Julie L. Daniels

    Vydáno 2012
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  8. 8
    Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification

    Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification Autor Matthew J. Maenner, Laura A. Schieve, Catherine E. Rice, Christopher Cunniff, Ellen Giarelli, Russell S. Kirby, Li Ching Lee, Joyce S. Nicholas, Martha S. Wingate, Maureen S. Durkin

    Vydáno 2013
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  9. 9
    Potential Impact of<i>DSM-5</i>Criteria on Autism Spectrum Disorder Prevalence Estimates

    Potential Impact of<i>DSM-5</i>Criteria on Autism Spectrum Disorder Prevalence Estimates Autor Matthew J. Maenner, Catherine E. Rice, Carrie L. Arneson, Christopher Cunniff, Laura A. Schieve, Laura A. Carpenter, Kim Van Naarden Braun, Russell S. Kirby, Amanda V. Bakian, Maureen S. Durkin

    Vydáno 2014
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  10. 10
    Advanced Parental Age and the Risk of Autism Spectrum Disorder

    Advanced Parental Age and the Risk of Autism Spectrum Disorder Autor Maureen S. Durkin, Matthew J. Maenner, Craig J. Newschaffer, L.-C. Lee, Christopher Cunniff, Julie L. Daniels, Russell S. Kirby, Lewis A. Leavitt, Lisa A. Miller, Walter Zahorodny, Laura A. Schieve

    Vydáno 2008
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  11. 11
    Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet

    Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet Autor Emma Ciafaloni, Anil Kumar, Ke Liu, Shree Pandya, Christina Westfield, Deborah Fox, Kristin M. Conway, Christopher Cunniff, Katherine D. Mathews, Nancy A. West, Paul A. Romitti, Michael McDermott

    Vydáno 2016
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  12. 12
    Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

    Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders Autor Michael F. Walsh, Vivian Y. Chang, Wendy Kohlmann, Hamish S. Scott, Christopher Cunniff, Franck Bourdeaut, Jan J. Molenaar, Christopher C. Porter, John T. Sandlund, Sharon E. Plon, Lisa L. Wang, Sharon A. Savage

    Vydáno 2017
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  13. 13
    Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

    Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) Autor Emma Ciafaloni, Deborah Fox, Shree Pandya, Christina Westfield, Soman Puzhankara, Paul A. Romitti, Katherine D. Mathews, Timothy M. Miller, Dennis J. Matthews, Lisa A. Miller, Christopher Cunniff, Charlotte M. Druschel, Richard T. Moxley

    Vydáno 2009
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  14. 14
    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome Autor Christopher T. Gordon, Christopher Cunniff, Glenn E. Green, Roseli Maria Zechi‐Ceide, Jason M. Johnson, Alex Henderson, Florence Petit, Nancy Mizue Kokitsu‐Nakata, Maria Leine Guion‐Almeida, Arnold Münnich, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    Vydáno 2014
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  15. 15
    Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

    Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome Autor Liangliang Wang, Anu Gannavarapu, Claudia A. Kozinetz, Moise L. Levy, Richard A. Lewis, Murali Chintagumpala, R. Ruiz-Maldanado, José Contreras‐Ruiz, Christopher Cunniff, Robert P. Erickson, Dorit Lev, Maureen Rogers, Elaine H. Zackai, Sharon E. Plon

    Vydáno 2003
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  16. 16
    The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Surveillance methodology

    The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Surveillance methodology Autor Lisa A. Miller, Paul A. Romitti, Christopher Cunniff, Charlotte M. Druschel, Katherine D. Mathews, F. John Meaney, Dennis J. Matthews, Jiji Kantamneni, Zhen‐Fang Feng, Nancy Zemblidge, Timothy M. Miller, Jennifer Andrews, Deborah Fox, Emma Ciafaloni, Shree Pandya, April Montgomery, Aileen Kenneson

    Vydáno 2006
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  17. 17
    Prevalence of Duchenne and Becker Muscular Dystrophies in the United States

    Prevalence of Duchenne and Becker Muscular Dystrophies in the United States Autor Paul A. Romitti, Yong Zhu, Soman Puzhankara, Katherine A. James, Sarah K. Nabukera, Gideon Zamba, Emma Ciafaloni, Christopher Cunniff, Charlotte M. Druschel, Katherine D. Mathews, Dennis J. Matthews, F. John Meaney, Jennifer Andrews, Kristin M. Conway, Deborah Fox, Natalie Street, Melissa M. Adams, Julie Bolen

    Vydáno 2015
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  18. 18
    A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

    A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome Autor Mark J. Rieder, Glenn E. Green, Sarah S. Park, Brendan D. Stamper, Christopher T. Gordon, Jason M. Johnson, Christopher Cunniff, Joshua D. Smith, Sarah B. Emery, Stanislas Lyonnet, Jeanne Amiel, Muriel Holder, Andrew A. Heggie, Michael J. Bamshad, Deborah A. Nickerson, Timothy C. Cox, Anne Hing, Jeremy A. Horst, Michael L. Cunningham

    Vydáno 2012
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  19. 19
    Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

    Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region Autor Jonathan S. Berg, Nicola Brunetti‐Pierri, Sarika U. Peters, Sung-Hae L. Kang, Chin-To Fong, Jessica Salamone, Debra Freedenberg, Vickie Hannig, Lisa Albers Prock, David T. Miller, Peter Raffalli, D. James Harris, Robert P. Erickson, Christopher Cunniff, Gary Clark, Maria Blazo, Daniel A. Peiffer, Kevin L. Gunderson, Trilochan Sahoo, Ankita Patel, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung

    Vydáno 2007
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  20. 20
    De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

    De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder Autor Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia M. Maas, Hester Y. Kroes, Augusta M.A. Lachmeijer, Koen L.I. van Gassen, Helen V. Firth, Susan Tomkins, Simon Bodek, Katrin Õunap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zöe Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro Iglesias, Kosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher

    Vydáno 2019
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