অনুসন্ধান ফলাফলগুলি - J. David Brook
- প্রদর্শন 1 - 20 ফলাফল এর 24
- পরবর্তী পৃষ্ঠায় যান
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Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex অনুযায়ী Sharan Paul, Warunee Dansithong, Sonali P. Jog, Ian Holt, Saloni Mittal, J. David Brook, Glenn E. Morris, Lucio Comai, Sita Reddy
প্রকাশিত 2011Artigo -
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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations অনুযায়ী Javier T Granados-Riveron, Mark Pope, Frances Bu’Lock, Christopher Thornborough, Jacqueline Eason, Kerry Setchfield, Ami Ketley, Edwin P. Kirk, Diane Fatkin, Michael P. Feneley, Richard P. Harvey, J. David Brook
প্রকাশিত 2011Artigo -
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α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects অনুযায়ী Javier T Granados-Riveron, Tushar K. Ghosh, Mark Pope, Frances Bu’Lock, Christopher Thornborough, Jacqueline Eason, Edwin P. Kirk, Diane Fatkin, Michael P. Feneley, Richard P. Harvey, John A.L. Armour, J. David Brook
প্রকাশিত 2010Artigo -
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Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects অনুযায়ী Jennifer England, Javier T Granados-Riveron, Luis Polo‐Parada, Diji Kuriakose, Chris Moore, J. David Brook, Catrin S. Rutland, Kerry Setchfield, Chris Gell, Tushar K. Ghosh, Frances Bu’Lock, Christopher Thornborough, Elisabeth Ehler, Siobhan Loughna
প্রকাশিত 2017Artigo -
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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy ce... অনুযায়ী Ami Ketley, Catherine Z. Chen, Xin Li, Sukrat Arya, Thelma Robinson, Javier T Granados-Riveron, I. Udosen, Glenn E. Morris, Ian Holt, Denis Furling, Soraya Chaouch, Ben Haworth, Noel Southall, Paul Shinn, Wei Zheng, Christopher P. Austin, Christopher J. Hayes, J. David Brook
প্রকাশিত 2013Artigo -
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Transcriptome alterations in myotonic dystrophy skeletal muscle and heart অনুযায়ী Eric T. Wang, Daniel J. Treacy, Katy Eichinger, Adam J. Struck, Joseph Estabrook, Hailey Olafson, Thomas T. Wang, Kirti Bhatt, Tony Westbrook, Sam Sedehizadeh, Amanda J. Ward, John Day, J. David Brook, J. Andrew Berglund, Thomas A. Cooper, David E. Housman, Charles A. Thornton, Christopher B. Burge
প্রকাশিত 2018Artigo -
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Mutation in myosin heavy chain 6 causes atrial septal defect অনুযায়ী Yung‐Hao Ching, Tushar K. Ghosh, Steve J. Cross, Elizabeth A. Packham, Louise Honeyman, Siobhan Loughna, Thelma Robinson, Andrew Dearlove, Glòria Ribas, Andrew J. Bonser, Neil R. Thomas, Andrew J. Scotter, Leo S. D. Caves, Graham P. Tyrrell, Ruth Newbury‐Ecob, Arnold Münnich, Damien Bonnet, J. David Brook
প্রকাশিত 2005Artigo -
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Alpha-cardiac actin mutations produce atrial septal defects অনুযায়ী Hans Matsson, Jacqueline Eason, Carol S. Bookwalter, Joakim Klar, Peter Gustavsson, Jan Sunnegårdh, Henrik Enell, Anders Jonzon, Miikka Vikkula, Ilse Gutierrez, Javier T Granados-Riveron, Mark Pope, Frances Bu’Lock, I. Jane Cox, Thelma Robinson, Feifei Song, J. David Brook, Steven B. Marston, Kathleen M. Trybus, Niklas Dahl
প্রকাশিত 2007Artigo -
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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls অনুযায়ী Rachel Soemedi, Ana Töpf, Ian Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J. David Brook, Javier T Granados-Riveron, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, Koenraad Devriendt, Jeroen Breckpot, Michael Hofbeck, Mark Lathrop, Anita Rauch, Gillian M. Blue, David S. Winlaw, Matthew E. Hurles, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney
প্রকাশিত 2011Artigo -
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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease অনুযায়ী Rachel Soemedi, Ian Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zélénika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier T Granados-Riveron, Gillian M. Blue, Jeroen Breckpot, Stephen Hellens, Simon Zwolinkski, Elise Glen, Chrysovalanto Mamasoula, Thahira Rahman, Darroch Hall, Anita Rauch, Koenraad Devriendt, Marc Gewillig, John O’ Sullivan, David S. Winlaw, Frances Bu’Lock, J. David Brook, Shoumo Bhattacharya, Mark Lathrop, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney
প্রকাশিত 2012Artigo -
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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot অনুযায়ী Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Richard M. Monaghan, Elisavet Fotiou, Heather J. Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J. David Brook, Kerry Setchfield, Frances Bu’Lock, John O’Sullivan, Graham Stuart, Connie R. Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martín Baron, Sanjeev S. Bhaskar, Graeme Black, William G. Newman, Kathryn E. Hentges, G.M. Lathrop, Mauro Santibanez‐Koref, Bernard Keavney
প্রকাশিত 2019Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Gene
Genetics
Cell biology
RNA
Medicine
Molecular biology
Myotonic dystrophy
Internal medicine
Mutation
RNA splicing
Allele
Alternative splicing
Cytoplasm
Heart disease
Phenotype
Transcription factor
Chromosome
Embryonic stem cell
Exome
Exome sequencing
Exon
GATA4
Genome
Genotype
Heart development
MYH6
MYH7
Messenger RNA
Missense mutation