نتائج البحث - Terry‐Lynn Young

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  1. 1
    A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31

    A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31 حسب Terry‐Lynn Young, Lynette S. Penney, Michael O. Woods, Patrick S. Parfrey, Jane S. Green, Donna Hefferton, William S. Davidson

    منشور في 1999
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  2. 2
    The cardiofaciocutaneous syndrome

    The cardiofaciocutaneous syndrome حسب Amy E. Roberts, Judith Allanson, Suzanne K. Jadico, Maria Inês Kavamura, Jacqueline A. Noonan, John M. Opitz, Terry‐Lynn Young, Giovanni Neri

    منشور في 2006
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  3. 3
    Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in <i>TMEM43</i> Following Implantable Cardioverter Defibrillator Therapy

    Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in <i>TMEM43</i> Following Implantable Cardioverter Defibrillat... حسب Kathleen Hodgkinson, Angela Howes, Paul Boland, Xiou Seegar Shen, Susan Stuckless, Terry‐Lynn Young, Fiona K. Curtis, Ashley Collier, Patrick S. Parfrey, Sean P. Connors

    منشور في 2016
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  4. 4
    Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

    Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 حسب Terry‐Lynn Young, Elizabeth Ives, Edward Lynch, Richard Person, Sandra S. Snook, L MacLaren, Tracey Cater, Aliesha Griffin, Bridget A. Fernandez, M K Lee, Mary‐Claire King, T Cator

    منشور في 2001
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  5. 5
    Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

    Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada حسب Annika Haywood, Nancy D. Merner, Kathy Hodgkinson, Jim Houston, Petros Syrris, Valerie Booth, Sean P. Connors, Antonios Pantazis, Giovanni Quarta, Perry Elliott, William J. McKenna, Terry‐Lynn Young

    منشور في 2012
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  6. 6
    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 حسب 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

    منشور في 2003
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  7. 7
    Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

    Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene حسب Nancy D. Merner, Kathy Hodgkinson, Annika Haywood, Sean P. Connors, Vanessa French, Jörg‐Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William J. McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry‐Lynn Young

    منشور في 2008
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  8. 8
    The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

    The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus حسب Hendrik Milting, Bärbel Klauke, Alex Hørby Christensen, Jörg Müsebeck, Volker Walhorn, Sören Grannemann, Tamara Münnich, Tomo Šarić, Torsten B. Rasmussen, Henrik Kjærulf Jensen, Jens Mogensen, Carolin Baecker, Elena Romaker, Kai Thorsten Laser, Edzard zu Knyphausen, Astrid Kassner, Jan Gummert, Daniel P. Judge, Sean P. Connors, Kathy Hodgkinson, Terry‐Lynn Young, Paul A. van der Zwaag, J. Peter van Tintelen, Dario Anselmetti

    منشور في 2014
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