Kết quả tìm kiếm - David Goudie

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  1. 1
    A general method for the detection of large CAG repeat expansions by fluorescent PCR.

    A general method for the detection of large CAG repeat expansions by fluorescent PCR. Bằng Jon Warner, L H Barron, David Goudie, K Kelly, David J. Dow, David Fitzpatrick, D. J. H. Brock

    Được phát hành 1996
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    Artigo
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  2. 2
    Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency)

    Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency) Bằng Elizabeth F. Gillard, Nabeel A. Affara, John R.W. Yates, David Goudie, J. C. Lambert, D.A. Aitken, M.A. Ferguson‐Smith

    Được phát hành 1987
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  3. 3
    Mutations in the chromatin-associated protein ATRX

    Mutations in the chromatin-associated protein ATRX Bằng Richard J. Gibbons, Takahito Wada, Christopher A. Fisher, N Malik, Matthew Mitson, David P. Steensma, Alan Fryer, David Goudie, Ian D. Krantz, Joanne Traeger‐Synodinos

    Được phát hành 2008
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  4. 4
    CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*

    CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy* Bằng Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi, David Goudie, Sarah E. Heron, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand, John C. Mulley

    Được phát hành 2001
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  5. 5
    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly

    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly Bằng Reuben J. Pengelly, Stephanie Greville‐Heygate, Susanne Schmidt, Eleanor G. Seaby, M. Reza Jabalameli, Sarju Mehta, Michael Parker, David Goudie, Christine Fagotto‐Kaufmann, Catherine Mercer, Anne Debant, Sarah Ennis, Diana Baralle

    Được phát hành 2016
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  6. 6
    Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

    Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis Bằng Aileen Sandilands, Gráinne M. O’Regan, Haihui Liao, Yiwei Zhao, Ana Terron-Kwiatkowski, Rosemarie M. Watson, Andrew Cassidy, David Goudie, Frances J.D. Smith, W.H. Irwin McLean, Alan D. Irvine

    Được phát hành 2006
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  7. 7
    Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, <i>BRCA</i> mutations and oophorectomy

    Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, <i>BRCA</i> mutations and oophorectomy Bằng Pål Møller, Åke Borg, D. Gareth Evans, Neva E. Haites, Marta M. Reis, Hans F. A. Vasen, Elaine Anderson, C. M. Steel, Jaran Apold, David Goudie, Anthony Howell, Fiona Lalloo, Lovise Mæhle, Helen Gregory, Ketil Heimdal

    Được phát hành 2002
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  8. 8
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect Bằng Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    Được phát hành 2020
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  9. 9
    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability Bằng Katrina Tatton‐Brown, Sheila Seal, Elise Ruark, Jenny E. Harmer, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Sandra Hanks, Eleanor M. O’Brien, Lise Aksglæde, Diana Baralle, Tabib Dabir, Blanca Gener, David Goudie, Tessa Homfray, Ajith Kumar, Daniela T. Pilz, Angelo Selicorni, I. Karen Temple, Lionel Van Maldergem, Naomi Yachelevich, Robert van Montfort, Nazneen Rahman

    Được phát hành 2014
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  10. 10
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals Bằng Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    Được phát hành 2019
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    Revisão
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  11. 11
    Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma Bằng Elizabeth Pöhler, Ons Mamaï, Jennifer Hirst, M. Zamiri, H. M. Horn, Toshifumi Nomura, Alan D. Irvine, Benvon Moran, Neil Wilson, Frances J.D. Smith, Christabelle S.M. Goh, Aileen Sandilands, Christian Cole, Geoffrey J. Barton, Alan Evans, Hiroshi Shimizu, Masashi Akiyama, Mitsuhiro Suehiro, Izumi Konohana, Mohammad Shboul, Sébastien Teissier, L. Boussofara, M. Denguezli, Ali Saâd, Moez Gribaa, Patricia J.C. Dopping-Hepenstal, John A. McGrath, Sara Brown, David Goudie, Bruno Reversade, Colin S. Munro, W.H. Irwin McLean

    Được phát hành 2012
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  12. 12
    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>

    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i> Bằng Katrina Andrews, David B. Ascher, Douglas E. V. Pires, Daniel R. Barnes, Lindsey Vialard, Ruth Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V. Hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne McConnell, Patrick J. Morrison, Victoria Murday, Soo‐Mi Park, Helen Simpson, Katie Snape, Susan E. Stewart, Susan Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S. Lindsay, Colin Perry, Emma R. Woodward, Antonis C. Antoniou, Eamonn R. Maher

    Được phát hành 2018
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  13. 13
    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders Bằng Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto‐Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo A. Wai, Alexander J.M. Dingemans, Jayne Y. Hehir‐Kwa, Marjorlaine Willems, Yline Capri, Sarju Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter D. Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Bürglen, Marion Gérard, Audrey Putoux, Vincent Cantagrel, Karine Siquier-Pernet, Marlène Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau‐Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle

    Được phát hành 2020
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    Artigo
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  14. 14
    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants Bằng Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglæde, Diana Baralle, Daniela Q.C.M. Barge‐Schaapveld, Moira Blyth, Mieke C. Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valérie Cormier‐Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jørgensen, Sarina G. Kant, Cathy Kirally-Borri, David A. Koolen, Ajith Kumar, Anatália Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury‐Ecob, Daniela T. Pilz, Renata Posmyk, Carlos E. Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter D. Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra‐Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman

    Được phát hành 2018
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    Pré-impressão
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  15. 15
    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome Bằng Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie H. Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton‐Smith, Hélène Dollfus, Pierre Bitoun, Françoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng T. Khaw, Carol L. Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury‐Ecob, Elias I. Traboulsi, Eduardo Silva, Mukhlis M. Madlom, David Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell‐Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine Prescott, Deborah Shears, Ken K. Nischal, Martine Doco‐Fenzy, Fabienne Prieur, I. Karen Temple, Katherine Lachlan, Giuseppe Damante, Danny Morrison, Veronica van Heyningen, David Fitzpatrick

    Được phát hành 2016
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  16. 16
    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants Bằng Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen F. Macnamara, Jennifer L. Murphy, Elizabeth M. McCormick, Hákon Hákonarson, Marni J. Falk, Dong Li, Patrick R. Blackburn, Eric W. Klee, Dusica Babovic‐Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina G. Kant, Bertrand Isidor, Benjamin Cogné, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff‐Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia Ruivenkamp, Esther Nibbeling, Alexander J.M. Dingemans, Emilie D. Douine, Stanley F. Nelson, Maja Hempel, Tatjana Bierhals, Davor Lessel, Jessika Johannsen, Valerie A. Arboleda, Ruth Newbury‐Ecob

    Được phát hành 2018
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  17. 17
    The phenotypic spectrum of <i>SCN8A</i> encephalopathy

    The phenotypic spectrum of <i>SCN8A</i> encephalopathy Bằng Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Được phát hành 2015
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  18. 18
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome Bằng 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

    Được phát hành 2017
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  19. 19
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data Bằng Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, 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

    Được phát hành 2020
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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 Bằng 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

    Được phát hành 2021
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