檢索結果 - Claire Turner

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  1. 1
    Management of type 2 diabetes: summary of updated NICE guidance

    Management of type 2 diabetes: summary of updated NICE guidance 由 Philip Home, Jonathan Mant, José J. Diaz, Claire Turner

    出版 2008
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  2. 2
    Management of rheumatoid arthritis: summary of NICE guidance

    Management of rheumatoid arthritis: summary of NICE guidance 由 Chris Deighton, Rachel O’Mahony, Jonathan Tosh, Claire Turner, M. Rudolf

    出版 2009
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  3. 3
    Hypnotic Activity of Melatonin

    Hypnotic Activity of Melatonin 由 Barbara M. Stone, Claire Turner, Sue L. Mills, A. N. Nicholson

    出版 2000
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  4. 4
    Sedation and histamine H<sub>1</sub>‐receptor antagonism: studies in man with the enantiomers of chlorpheniramine and dimethindene

    Sedation and histamine H<sub>1</sub>‐receptor antagonism: studies in man with the enantiomers of chlorpheniramine and dimethindene 由 A. N. Nicholson, Peta A. Pascoe, Claire Turner, C. Robin Ganellin, Pamela Greengrass, A. F. Casy, Amanda D. Mercer

    出版 1991
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  5. 5
    Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for<i>DYNC1I1</i>exonic enhancers of<i>DLX5/6</i>expression in humans

    Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for<i>DYNC1I1</i>exonic enhancers of<i>DLX5/6</i>expr... 由 Hana Lango Allen, Richard Caswell, Weijia Xie, Xu Xiao, Christopher Wragg, Peter D. Turnpenny, Claire Turner, Michael N. Weedon, Sian Ellard

    出版 2014
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  6. 6
    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders 由 Rebecca Poole, Louise E Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner, Emma L. Baple, Emma Wakeling, Lucy Harrison, Anna Lehmann, I. Karen Temple, Deborah Mackay

    出版 2013
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  7. 7
    Diversity and distribution of sulphate-reducing bacteria in human faeces from healthy subjects and patients with inflammatory bowel disease

    Diversity and distribution of sulphate-reducing bacteria in human faeces from healthy subjects and patients with inflammatory bowel disease 由 Wenjing Jia, Rebekah N. Whitehead, Lesley Griffiths, Claire Dawson, Hao Bai, R. H. Waring, D. Ramsden, John O. Hunter, Michael Cauchi, Conrad Bessant, Dawn P. Fowler, Christopher Walton, Claire Turner, Jeffrey A. Cole

    出版 2012
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  8. 8
    Mosaic Turner syndrome shows reduced penetrance in an adult population study

    Mosaic Turner syndrome shows reduced penetrance in an adult population study 由 Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Samuel E. Jones, Hanieh Yaghootkar, Claire Turner, Mollie E. Donohoe, Antonia Brooke, Morag N. Collinson, Rachel M. Freathy, Michael N. Weedon, Timothy M. Frayling, Anna Murray

    出版 2018
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  9. 9
    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci 由 Claire Turner, Deborah Mackay, Jonathan L A Callaway, Louise E Docherty, Rebecca Poole, H. Bullman, Margaret Lever, Bruce Castle, Emma Kivuva, Peter D. Turnpenny, Sarju Mehta, Sahar Mansour, Emma Wakeling, Verghese Mathew, J. Madden, Justin H. Davies, I. Karen Temple

    出版 2010
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  10. 10
    Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

    Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure 由 Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo, Nina Powell‐Hamilton, Kim Jenny, Karen W. Gripp, Miriam Elbracht, Thomas Eggermann, Claire Turner, I. Karen Temple, Deborah Mackay, Holly Dubbs, David A. Stevenson, Leah Slattery, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz, Laura K. Conlin

    出版 2015
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  11. 11
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans 由 Louise E Docherty, Faisal I. Rezwan, Rebecca Poole, Claire Turner, Emma Kivuva, Eamonn R. Maher, Sarah Smithson, Julian Hamilton‐Shield, Michał Patalan, Maria Giżewska, Jarosław Peregud‐Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma L. Baple, Sahar Mansour, I. Karen Temple, Deborah Mackay

    出版 2015
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  12. 12
    Reporting on invasive lobular breast cancer in clinical trials: a systematic review

    Reporting on invasive lobular breast cancer in clinical trials: a systematic review 由 Karen Van Baelen, Josephine Van Cauwenberge, Marion Maetens, Gabriela Beck, Ann Camden, Megan-Claire Chase, Valerie Fraser, Siobhan Freeney, Laurie Hutcheson, Julia K. Levine, Tone Lien, Rian Terveer, Claire Turner, Elżbieta Senkus, Rachel C. Jankowitz, Vincent Vandecaveye, Giuseppe Floris, Patrick Neven, Hans Wildiers, Elinor J. Sawyer, Anne Vincent‐Salomon, Patrick W.B. Derksen, Christine Desmedt

    出版 2024
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    Revisão
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  13. 13
    BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

    BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription 由 Cristina Dias, Sara B. Estruch, Sarah A. Graham, Jeremy F. McRae, Stephen J. Sawiak, Jane A. Hurst, Shelagh Joss, Susan Holder, Jenny E.V. Morton, Claire Turner, Julien Thévenon, Kelly Mellul, Gabriela Sánchez-Andrade, Ximena Ibarra-Soria, Pelagia Derizioti, Rui F. Santos, Song‐Choon Lee, Laurence Faivre, Tjitske Kleefstra, Pentao Liu, M.E. Hurles, Simon E. Fisher, Darren W. Logan

    出版 2016
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  14. 14
    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring 由 Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl‐Jaschkowitz, Claire Turner, Michał Patalan, Maria Giżewska, Gerhard Binder, Cấn Thị Bích Ngọc, Vũ Chí Dũng, Sarju Mehta, Gareth Baynam, Julian Hamilton‐Shield, Sara Aljareh, Oluwakemi Lokulo‐Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I. Karen Temple, Thomas Eggermann, Deborah Mackay

    出版 2018
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  15. 15
    Genetic association analysis of 77,539 genomes reveals rare disease etiologies

    Genetic association analysis of 77,539 genomes reveals rare disease etiologies 由 Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Østergaard, Bart Loeys, Hiroko Morisaki, Zubair M. Ahmed, Graeme M. Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro

    出版 2023
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  16. 16
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 由 Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    出版 2017
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  17. 17
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome 由 Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    出版 2025
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  18. 18
    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 由 Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, Øyvind L. Busk, Philippe M. Campeau, Valeria Capra, Colleen M. Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton‐Smith, Michael J. Bamshad, Dawn Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul‐Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly S. McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda Openshaw, Janice C. Palumbos, Aditi Shah Parikh, Yezmin Perilla‐Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey‐Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung‐Chien Hsieh, Keri Ramsey, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Bert B.A. de Vries, François Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

    出版 2024
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  19. 19
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome 由 Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim

    出版 2017
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  20. 20
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders 由 Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    出版 2021
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