Search Results - "geneticist"

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  1. 61
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    Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis by Thorne Carter, Spencer Charles, Elorduy Maria, Pastores Gregory M, Link Bianca, Koné-Paut Isabelle, Coppa Giovanni, Cimaz Rolando, Wulffraat Nico, Manger Bernhard

    Published 2009
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  2. 62
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    Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center by Chiara Retrosi, Andrea Diociaiuti, Cristiana De Ranieri, Marialuisa Corbeddu, Claudia Carnevale, Simona Giancristoforo, Maria Rosaria Marchili, Guglielmo Salvatori, Marta Luisa Ciofi degli Atti, May El Hachem, Massimiliano Raponi

    Published 2022
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  3. 63
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    Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison by Marcia Sellos-Moura, Frank Glavin, David Lapidus, Kristin Evans, Carolyn R. Lew, Debra E. Irwin

    Published 2020
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  4. 64
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    A utilização da Internet na notificação dos defeitos congênitos na Declaração de Nascido Vivo em quatro maternidades públicas do Município de São Paulo, Brasil Use of the... by Pablo Domingos Rodrigues de Nicola, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez, Decio Brunoni

    Published 2010
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  5. 65
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    Riesgo de malformaciones mayores y menores en niños concebidos por técnicas de reproducción asistida (FIV/ICSI): estudio prospectivo de cohorte controlado by María José Sánchez Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez-Pradillo, María Nicolás-Arnao, Emilio Gómez-Sánchez, Virginia Pérez-Fernández, Encarna Guillén Navarro

    Published 2021
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  6. 66
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    Development and evaluation of a personalised psychological intervention to improve adherence to photoprotection in adults with Xeroderma Pigmentosum (XP) by Robert Sarkany, Jessica Walburn, Rebecca Anderson, Vera Araujo-Soares, Janette Boadu, Martha Canfield, Lesley Foster, Paul McCrone, Myfanwy Morgan, Sam Norton, Kirby Sainsbury, John Weinman

    Published 2024
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  7. 67
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    Current Challenges in Cardiovascular Molecular Diagnostics by Carlo Napolitano

    Published 2017
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  8. 68
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    The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency by Devilee Peter, Bayley Jean-Pierre, Taschner Peter EM

    Published 2005
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  9. 69
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    Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals by Scott P. McGrath, Nephi Walton, Marc S. Williams, Katherine K. Kim, Kiran Bastola

    Published 2019
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  10. 70
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    Cerebral Folate Deficiency Syndromes by J Gordon Millichap

    Published 2011
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  11. 71
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    Clinical Manifestations of Sotos Syndrome by J Gordon Millichap

    Published 2009
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  12. 72
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    Hypomelanosis of Ito: A Genetic Mosaicism by J Gordon Millichap

    Published 1999
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  13. 73
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    Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions by J Gordon Millichap

    Published 2012
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  14. 74
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    ADHD and Frontal-Motor Cortex Disconnection by J Gordon Millichap

    Published 1997
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  15. 75
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    Incidental Findings: The Importance of Pretest Counseling by Kathryn M. Buchtel, Elizabeth A. Leeth

    Published 2016
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  16. 76
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    OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome by Johanna Tecklenburg, Beate Vajen, Susanne Morlot, Petra Anders, Paula Memenga, Elena Link, Eva Baumann, Sarah Wölffling, Evelin Schröck, Anke Katharina Bergmann, Brigitte Schlegelberger

    Published 2022
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  17. 77
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    Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss by Sloane Clay, Adele Evans, Regina Zambrano, David Otohinoyi, Chindo Hicks, Fern Tsien

    Published 2024
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  18. 78
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    Islamic Ethics and the Genome Question

    Published 2018
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  19. 79
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    The Brassicaceae Agri-Horticultural and Environmental Perspectives by Sarvajeet Singh Gill

    Published 2018
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  20. 80
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    New Trends on Genome and Transcriptome Characterizations by Vincenzo Manca

    Published 2018
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