Hakutulokset - Samantha J.L. Knight

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  1. 1
    Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

    Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis Tekijä Samantha J.L. Knight

    Julkaistu 2000
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  2. 2
    Analysis of very late gene expression by Autographa californica nuclear polyhedrosis virus and the further development of multiple expression vectors

    Analysis of very late gene expression by Autographa californica nuclear polyhedrosis virus and the further development of multiple expression vectors Tekijä U. Weyer, Samantha J.L. Knight, R. D. Possee

    Julkaistu 1990
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  3. 3
    A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia

    A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia Tekijä Leslie A. Lange, A. T. Pagnamenta, Stefano Lise, Steven Clasper, Helen Stewart, Elham Sadighi Akha, Gerardine Quaghebeur, Samantha J.L. Knight, David A. Keays, Jenny C. Taylor, Usha Kini

    Julkaistu 2016
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  4. 4
    Mutations of <i>NFKBIA</i>, encoding IκBα, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non‐EBV‐associated cases

    Mutations of <i>NFKBIA</i>, encoding IκBα, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non‐EBV‐associated cases Tekijä Annette Lake, Lesley Shield, Pablo Cordano, Daniel Chui, Julie Osborne, Shauna Crae, Katherine S. Wilson, Sabrina Tosi, Samantha J.L. Knight, Stefan Gesk, Reiner Siebert, Ronald T. Hay, Ruth F. Jarrett

    Julkaistu 2009
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  5. 5
    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis Tekijä Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini

    Julkaistu 2015
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  6. 6
    Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

    Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis Tekijä Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst, Jayaratnam Jayamohan, David Johnson, Samantha J.L. Knight, Tracy Lester, Peter G. Richards, Stephen R.F. Twigg, Steven A. Wall

    Julkaistu 2010
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  7. 7
    Molecular heterogeneity of the fragile X syndrome

    Molecular heterogeneity of the fragile X syndrome Tekijä Yutaka Nakahori, Samantha J.L. Knight, Jill Holland, Charles E. Schwartz, A. Roche, Jack Tarleton, S Wong, Tracey Flint, U. Froster‐Iskenius, D. R. Bentley, Kay E. Davies, Mark C. Hirst

    Julkaistu 1991
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  8. 8
    A 15q13.3 microdeletion segregating with autism

    A 15q13.3 microdeletion segregating with autism Tekijä Alistair T. Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha J.L. Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M. Klauck, Annemarie Poustka, Jiannis Ragoussis, Anthony Bailey, Anthony P. Monaco

    Julkaistu 2008
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  9. 9
    The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance

    The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance Tekijä Monika Mortensen, Elizabeth J. Soilleux, Gordana Djordjević, Rebecca Tripp, Michael Lutteropp, Elham Sadighi-Akha, Amanda J. Stranks, Julie Glanville, Samantha J.L. Knight, Sten Eirik W. Jacobsen, Kamil R. Kranc, Anna Katharina Simon

    Julkaistu 2011
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  10. 10
    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies Tekijä Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays

    Julkaistu 2011
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  11. 11
    Molecular and clinical delineation of the 17q22 microdeletion phenotype

    Molecular and clinical delineation of the 17q22 microdeletion phenotype Tekijä Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniené, Samantha J.L. Knight, Ana Cristina Victorino Krepischi, Agneta Nordenskjöld, Susan Price, Carla Rosenberg, Peter D. Turnpenny, Angela Maria Vianna‐Morgante, Ann Nordgren

    Julkaistu 2013
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  12. 12
    Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia

    Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia Tekijä Samantha J.L. Knight, Christopher Yau, Ruth Clifford, Adele Timbs, Elham Sadighi Akha, Hélène Dreau, Adam Burns, Cristian Ciria, David Oscier, Andrew R. Pettitt, Susan Dutton, Chris Holmes, Jenny C. Taylor, Jean‐Baptiste Cazier, Anna Schuh

    Julkaistu 2012
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  13. 13
    Phenotype and natural history in Marshall–Smith syndrome

    Phenotype and natural history in Marshall–Smith syndrome Tekijä Adam Shaw, Inge D.C. Van Balkom, Mislen Bauer, Trevor Cole, Marie‐Ange Delrue, Arie van Haeringen, Eva Holmberg, Samantha J.L. Knight, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Martin Zenker, Valérie Cormier‐Daire, Raoul C. M. Hennekam

    Julkaistu 2010
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  14. 14
    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom Tekijä Katharina Schwarze, James Buchanan, Jilles M. Fermont, Hélène Dreau, Mark Tilley, John Taylor, Pavlos Antoniou, Samantha J.L. Knight, Carme Camps, Melissa M. Pentony, Erika Kvikstad, Steve Harris, Niko Popitsch, Alistair T. Pagnamenta, Anna Schuh, Jenny C. Taylor, Sarah Wordsworth

    Julkaistu 2019
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  15. 15
    An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

    An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture Tekijä Samantha J.L. Knight, Christa M. Lese, Kathrin S. Precht, Julie A. Kuc, Yi Ning, Sarah Lucas, Regina Regan, Mary Brenan, A Nicod, N. M. Lawrie, D. L. N. Cardy, Huy Nguyen, Thomas J. Hudson, Harold Riethman, David H. Ledbetter, Jonathan Flint

    Julkaistu 2000
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  16. 16
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant Tekijä Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch

    Julkaistu 2008
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  17. 17
    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization Tekijä Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, C.D.O. Cooper, Nouriya Al‐Sannaa, Alı Annagür, Gabriele Gillessen‐Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard Keavney, Philip L. Beales, O. Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

    Julkaistu 2012
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  18. 18
    Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

    Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Lef... Tekijä Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Elizabeth Ormondroyd, Alistair T. Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate Thomson, Linda Arnold, S.D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich

    Julkaistu 2016
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  19. 19
    Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia

    Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia Tekijä Jenny Klintman, Niamh Appleby, Basile Stamatopoulos, Katie Ridout, Toby A. Eyre, Pauline Robbe, Laura Lopez Pascua, Samantha J.L. Knight, Hélène Dreau, Maité Cabes, Niko Popitsch, Mats Ehinger, José I. Martín‐Subero, Elı́as Campo, Robert Månsson, Davide Rossi, Jenny C. Taylor, Dimitrios V. Vavoulis, Anna Schuh

    Julkaistu 2020
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  20. 20
    Characterization of a recurrent 15q24 microdeletion syndrome

    Characterization of a recurrent 15q24 microdeletion syndrome Tekijä Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue Price, Nine V.A.M. Knoers, Peggy S. Eis, Han G. Brunner, Raoul C. M. Hennekam, Samantha J.L. Knight, Bert B.A. de Vries, Orsetta Zuffardi, Evan E. Eichler

    Julkaistu 2007
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