Kết quả tìm kiếm - Terry‐Lynn Young
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The cardiofaciocutaneous syndrome Bằng Amy E. Roberts, Judith Allanson, Suzanne K. Jadico, Maria Inês Kavamura, Jacqueline A. Noonan, John M. Opitz, Terry‐Lynn Young, Giovanni Neri
Được phát hành 2006Revisão -
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Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in <i>TMEM43</i> Following Implantable Cardioverter Defibrillat... Bằng 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
Được phát hành 2016Artigo -
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Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 Bằng 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
Được phát hành 2001Artigo -
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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada Bằng 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
Được phát hành 2012Artigo -
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Mutational spectrum of theWFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease Bằng 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
Được phát hành 2003Revisão -
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Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene Bằng 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
Được phát hành 2008Artigo -
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The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus Bằng 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
Được phát hành 2014Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Medicine
Biology
Gene
Genetics
Internal medicine
Mutation
Allele
Cardiomyopathy
Environmental health
Haplotype
Heart failure
Missense mutation
Phenotype
Population
Atrophy
Audiology
Genetic heterogeneity
Hearing loss
Locus (genetics)
Sensorineural hearing loss
Sudden cardiac death
Sudden death
Wolfram syndrome
Arrhythmogenic right ventricular dysplasia
Bardet–Biedl syndrome
Cancer research
Cardiology
Cell
Compound heterozygosity
Confidence interval