Works matching AU Burn, John

Results: 163
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    Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 332, doi. 10.1002/humu.23906
    By:
    • Gallon, Richard;
    • Sheth, Harsh;
    • Hayes, Christine;
    • Redford, Lisa;
    • Alhilal, Ghanim;
    • O'Brien, Ottilia;
    • Spiewak, Helena;
    • Waltham, Amanda;
    • McAnulty, Ciaron;
    • Izuogu, Osagie G.;
    • Arends, Mark J.;
    • Oniscu, Anca;
    • Alonso, Angel M.;
    • Laguna, Sira M.;
    • Borthwick, Gillian M.;
    • Santibanez‐Koref, Mauro;
    • Jackson, Michael S.;
    • Burn, John
    Publication type:
    Article
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    The Human Variome Project.

    Published in:
    Human Mutation, 2016, v. 37, n. 6, p. 505, doi. 10.1002/humu.22986
    By:
    • Burn, John;
    • Watson, Michael
    Publication type:
    Article
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    Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

    Published in:
    Human Mutation, 2011, v. 32, n. 4, p. 491, doi. 10.1002/humu.21450
    By:
    • Kohonen-Corish, Maija R. J.;
    • Macrae, Finlay;
    • Genuardi, Maurizio;
    • Aretz, Stefan;
    • Bapat, Bharati;
    • Bernstein, Inge T.;
    • Burn, John;
    • Cotton, Richard G. H.;
    • den Dunnen, Johan T.;
    • Frebourg, Thierry;
    • Greenblatt, Marc S.;
    • Hofstra, Robert;
    • Holinski-Feder, Elke;
    • Lappalainen, Ilkka;
    • Lindblom, Annika;
    • Maglott, Donna;
    • Møller, Pål;
    • Morreau, Hans;
    • Möslein, Gabriela;
    • Sijmons, Rolf
    Publication type:
    Article
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    How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010.

    Published in:
    Human Mutation, 2010, v. 31, n. 12, p. 1374, doi. 10.1002/humu.21379
    By:
    • Kohonen-Corish, Maija R.J.;
    • Al-Aama, Jumana Y.;
    • Auerbach, Arleen D.;
    • Axton, Myles;
    • Barash, Carol Isaacson;
    • Bernstein, Inge;
    • Béroud, Christophe;
    • Burn, John;
    • Cunningham, Fiona;
    • Cutting, Garry R.;
    • den Dunnen, Johan T.;
    • Greenblatt, Marc S.;
    • Kaput, Jim;
    • Katz, Michael;
    • Lindblom, Annika;
    • Macrae, Finlay;
    • Maglott, Donna;
    • Möslein, Gabriela;
    • Povey, Sue;
    • Ramesar, Raj
    Publication type:
    Article
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    Planning the Human Variome Project: The Spain report.

    Published in:
    Human Mutation, 2009, v. 30, n. 4, p. 496, doi. 10.1002/humu.20972
    By:
    • Kaput, Jim;
    • Cotton, Richard G.H.;
    • Hardman, Lauren;
    • Watson, Michael;
    • Al Aqeel, Aida I.;
    • Al-Aama, Jumana Y.;
    • Al-Mulla, Fahd;
    • Alonso, Santos;
    • Aretz, Stefan;
    • Auerbach, Arleen D.;
    • Bapat, Bharati;
    • Bernstein, Inge T.;
    • Bhak, Jong;
    • Bleoo, Stacey L.;
    • Blöcker, Helmut;
    • Brenner, Steven E.;
    • Burn, John;
    • Bustamante, Mariona;
    • Calzone, Rita;
    • Cambon-Thomsen, Anne
    Publication type:
    Article
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    Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

    Published in:
    NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00603-z
    By:
    • Gallon, Richard;
    • Brekelmans, Carlijn;
    • Martin, Marie;
    • Bours, Vincent;
    • Schamschula, Esther;
    • Amberger, Albert;
    • Muleris, Martine;
    • Colas, Chrystelle;
    • Dekervel, Jeroen;
    • De Hertogh, Gert;
    • Coupier, Jérôme;
    • Colleye, Orphal;
    • Sepulchre, Edith;
    • Burn, John;
    • Brems, Hilde;
    • Legius, Eric;
    • Wimmer, Katharina
    Publication type:
    Article
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    Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 9, p. 516, doi. 10.1038/sj.ejhg.5200846
    By:
    • Toutain, Annick;
    • Dessay, Benoit;
    • Ronce, Nathalie;
    • Ferrante, Maria-Immacolata;
    • Tranchemontagne, Julie;
    • Newbury-Ecob, Ruth;
    • Wallgren-Pettersson, Carina;
    • Burn, John;
    • Kaplan, Josseline;
    • Rossi, Annick;
    • Russo, Silvia;
    • Walpole, Ian;
    • Hartsfield, James K.;
    • Oyen, Nina;
    • Nemeth, Andrea;
    • Bitoun, Pierre;
    • Trump, Dorothy;
    • Moraine, Claude;
    • Franco, Brunella
    Publication type:
    Article
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    A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.

    Published in:
    PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203052
    By:
    • Redford, Lisa;
    • Alhilal, Ghanim;
    • Needham, Stephanie;
    • O’Brien, Ottie;
    • Coaker, Julie;
    • Tyson, John;
    • Amorim, Leonardo Maldaner;
    • Middleton, Iona;
    • Izuogu, Osagi;
    • Arends, Mark;
    • Oniscu, Anca;
    • Alonso, Ángel Miguel;
    • Laguna, Sira Moreno;
    • Gallon, Richard;
    • Sheth, Harsh;
    • Santibanez-Koref, Mauro;
    • Jackson, Michael S.;
    • Burn, John
    Publication type:
    Article
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    A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

    Published in:
    Nature Genetics, 1998, v. 20, n. 4, p. 358, doi. 10.1038/3828
    By:
    • Ross, Alison J.;
    • Ruiz-Perez, Victor;
    • Wang, Yiming;
    • Hagan, Donna-Marie;
    • Scherer, Steve;
    • Lynch, Sally A.;
    • Lindsay, Susan;
    • Custard, Emily;
    • Belloni, Elena;
    • Wilson, David I.;
    • Wadey, Roy;
    • Goodman, Frances;
    • Orstavik, Karen Helene;
    • Monclair, Tom;
    • Robson, Steve;
    • Reardon, William;
    • Burn, John;
    • Scambler, Pete;
    • Strachan, Tom
    Publication type:
    Article
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    Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).

    Published in:
    Genes, Chromosomes & Cancer, 2005, v. 44, n. 2, p. 123, doi. 10.1002/gcc.20219
    By:
    • Heleen van der Klift;
    • Juul Wijnen;
    • Anja Wagner;
    • Paul Verkuilen;
    • Carli Tops;
    • Robyn Otway;
    • Maija Kohonen‐Corish;
    • Hans Vasen;
    • Cristina Oliani;
    • Daniela Barana;
    • Pal Moller;
    • Celia DeLozier‐Blanchet;
    • Pierre Hutter;
    • William Foulkes;
    • Henry Lynch;
    • John Burn;
    • Gabriela Möslein;
    • Riccardo Fodde
    Publication type:
    Article
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    Spectrum of movement disorders in neuroferritinopathy.

    Published in:
    Movement Disorders, 2005, v. 20, n. 1, p. 95, doi. 10.1002/mds.20284
    By:
    • Crompton, Douglas E.;
    • Chinnery, Patrick F.;
    • Bates, David;
    • Walls, Timothy J.;
    • Jackson, Margaret J.;
    • Curtis, Andrew J.;
    • Burn, John
    Publication type:
    Article
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    THOMAS SIMON.

    Published in:
    Notes & Queries, 1862, v. 1, n. 11, p. 219-c
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    KING PLAYS.

    Published in:
    Notes & Queries, 1862, v. 1, n. 11, p. 220-d
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    SOLICITORS' BILLS.

    Published in:
    Notes & Queries, 1862, v. 1, n. 6, p. 118
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    CHURCHWARDENS.

    Published in:
    Notes & Queries, 1862, v. 1, n. 1, p. 19
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    THOMAS SIMON.

    Published in:
    Notes & Queries, 1861, v. 12, n. 307, p. 403-d
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    TIFFANY.

    Published in:
    Notes & Queries, 1861, v. 12, n. 301, p. 276-e
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    THOMAS SIMON.

    Published in:
    Notes & Queries, 1861, v. 12, n. 298, p. 218
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    MIDWIVES.

    Published in:
    Notes & Queries, 1861, v. 11, n. 265, p. 76-c
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    FEES FOR BAPTISM.

    Published in:
    Notes & Queries, 1860, v. 10, n. 258, p. 452-b
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    BOOKS BURNT.

    Published in:
    Notes & Queries, 1860, v. 10, n. 241, p. 106-b
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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    BUGS.

    Published in:
    Notes & Queries, 1860, v. 10, n. 240, p. 98-c
    By:
    • BURN, JOHN S.
    Publication type:
    Article
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