Resultats de la cerca - 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 per Christopher Cunniff, Jennifer A. Bassetti, Nathan A. Ellis

    Publicat 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 per H. Stefan Bracha, E. Fuller Torrey, Irving I. Gottesman, Llewellyn B. Bigelow, Christopher Cunniff

    Publicat 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 per Judith Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Maximilian Muenke, Giovanni Neri

    Publicat 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 per Meredith M. Howley, Tonia C. Carter, Marilyn L. Browne, Paul A. Romitti, Christopher Cunniff, Charlotte M. Druschel

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

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

    Publicat 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 per Rebecca Latimer, Natalie Street, Kristin Caspers Conway, Kathy James, Christopher Cunniff, Joyce Oleszek, Deborah Fox, Emma Ciafaloni, Christina Westfield, Pangaja Paramsothy

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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) per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 2019
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