Výsledky vyhledávání - Marci M. Lesperance

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  1. 1
    Squamous cell carcinoma arising in inverted papilloma

    Squamous cell carcinoma arising in inverted papilloma Autor Marci M. Lesperance, Ramon M. Esclamado

    Vydáno 1995
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    Artigo
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  2. 2
    Diaphanous homolog 3 (Diap3) Overexpression Causes Progressive Hearing Loss and Inner Hair Cell Defects in a Transgenic Mouse Model of Human Deafness

    Diaphanous homolog 3 (Diap3) Overexpression Causes Progressive Hearing Loss and Inner Hair Cell Defects in a Transgenic Mouse Model of Human Deafness Autor Cynthia J. Schoen, Margit Burmeister, Marci M. Lesperance

    Vydáno 2013
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  3. 3
    A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:<i>NOG</i>‐related‐symphalangism spectrum disorder (<i>NOG</i>‐SSD)

    A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:<i>NOG</i>‐related‐symphalangism spe... Autor Tommy A. Potti, Elizabeth M. Petty, Marci M. Lesperance

    Vydáno 2011
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  4. 4
    Pediatric Myofibromatosis of the Head and Neck

    Pediatric Myofibromatosis of the Head and Neck Autor Jill C. Beck, Kenneth O. Devaney, Robert A. Weatherly, Charles F. Koopmann, Marci M. Lesperance

    Vydáno 1999
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  5. 5
    A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21

    A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21 Autor T. B. Kim, Brandon Isaacson, Theru A. Sivakumaran, A. Starr, Bronya J.B. Keats, Marci M. Lesperance

    Vydáno 2004
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  6. 6
    The Sequence and Antiapoptotic Functional Domains of the Human Cytomegalovirus UL37 Exon 1 Immediate Early Protein Are Conserved in Multiple Primary Strains

    The Sequence and Antiapoptotic Functional Domains of the Human Cytomegalovirus UL37 Exon 1 Immediate Early Protein Are Conserved in Multiple Primary Strains Autor Wail Hayajneh, Anamaris M. Colberg‐Poley, Anna Skaletskaya, Laura M. Bartle, Marci M. Lesperance, Despina G. Contopoulos‐Ioannidis, Nancy Kedersha, Victor S. Goldmacher

    Vydáno 2001
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  7. 7
    Validity, discriminative ability, and reliability of the hearing-related quality of life questionnaire for adolescents

    Validity, discriminative ability, and reliability of the hearing-related quality of life questionnaire for adolescents Autor Tara Rachakonda, Donna B. Jeffe, Jennifer J. Shin, Leila A. Mankarious, Robert Joseph Adrian Fanning, Marci M. Lesperance, Judith E. C. Lieu

    Vydáno 2013
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  8. 8
    A Dominantly Inherited Progressive Deafness Affecting Distal Auditory Nerve and Hair Cells

    A Dominantly Inherited Progressive Deafness Affecting Distal Auditory Nerve and Hair Cells Autor Arnold Starr, Brandon Isaacson, Henry J. Michalewski, Fan‐Gang Zeng, Ying-Yee Kong, Paula Beale, George W. Paulson, Bronya J.B. Keats, Marci M. Lesperance

    Vydáno 2004
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  9. 9
    Increased activity of <i>Diaphanous homolog 3</i> ( <i>DIAPH3</i> )/ <i>diaphanous</i> causes hearing defects in humans with auditory neuropathy and in <i>Drosophila</i>

    Increased activity of <i>Diaphanous homolog 3</i> ( <i>DIAPH3</i> )/ <i>diaphanous</i> causes hearing defects in humans with auditory neuropathy and in <i>Drosophila</i> Autor Cynthia J. Schoen, Sarah B. Emery, Marc C. Thorne, Hima Reddy Ammana, Elżbieta Śliwerska, Jameson Arnett, Michael Hortsch, Frances Hannan, Margit Burmeister, Marci M. Lesperance

    Vydáno 2010
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  10. 10
    Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*

    Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encod... Autor David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance

    Vydáno 2002
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  11. 11
    A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

    A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3 Autor Marci M. Lesperance, James W. Hail, Fred H. Bess, Kunihiro Fukushima, Pawan Kumar Jain, Barbara Plopils, Theresa B.San Agustin, H Skarka, Richard J. Smith, Marketa Wills, Edward R. Wilcox

    Vydáno 1995
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  12. 12
    Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

    Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease Autor Kim Cryns, Theru A. Sivakumaran, Jody M.W. van den Ouweland, Ronald J. E. Pennings, Cor W. R. J. Cremers, Kris Flothmann, Terry‐Lynn Young, Richard J. Smith, Marci M. Lesperance, Guy Van Camp

    Vydáno 2003
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  13. 13
    Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

    Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice Autor Jérôme Ruel, Sarah B. Emery, Régis Nouvian, Tiphaine Bersot, Bénédicte Amilhon, Jana M. Van Rybroek, Guy Rebillard, Marc Lenoir, Michel Eybalin, Benjamin Delprat, Theru A. Sivakumaran, Bruno Giros, Salah El Mestikawy, Tobias Moser, Richard J. Smith, Marci M. Lesperance, Jean‐Luc Puel

    Vydáno 2008
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  14. 14
    Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

    Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss Autor Irina N. Bespalova, Guy Van Camp, Steven J. H. Bom, David J. Brown, Kim Cryns, Andrew T. DeWan, Ayse Elif Erson‐Bensan, Kris Flothmann, Henricus P. M. Kunst, Purnima Kurnool, Theru A. Sivakumaran, Cor W. R. J. Cremers, Suzanne M. Leal, Margit Burmeister, Marci M. Lesperance

    Vydáno 2001
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  15. 15
    Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment Autor Nanna Dahl Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner‐Glindzicz, Sarah B. Emery, Marilyn B. Mets, Toril Fagerheim, Kristina Eriksson, Lars Hestbjerg Hansen, Helene Bruhn, Claes Möller, Sture Lindholm, Stefan Ensgaard, Marci M. Lesperance, Lisbeth Tranebjærg

    Vydáno 2011
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