檢索結果 - Anna Thomas
- Showing 1 - 18 results of 18
-
1
-
2
-
3
-
4
-
5
Program of Integrated Care for Patients with Chronic Obstructive Pulmonary Disease and Multiple Comorbidities (PIC COPD<sup>+</sup>): a randomised controlled trial 由 Louise Rose, Laura Istanboulian, Lise Carrière, Anna Thomas, Han-Byul Lee, Shaghayegh Rezaie, Roshan Shafai, Ian Fraser
出版 2018Artigo -
6
-
7
Injectable anti-malarials revisited: discovery and development of new agents to protect against malaria 由 Fiona Macintyre, Hanu Ramachandruni, Jeremy N. Burrows, René Holm, Anna Thomas, Jörg J. Möhrle, Stephan Duparc, Rob Hooft van Huijsduijnen, Brian Greenwood, Winston E. Gutteridge, Timothy N. C. Wells, Wiweka Kaszubska
出版 2018Revisão -
8
Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi 由 Satyamaanasa Polubothu, Nancy McGuire, Lara Al-Olabi, William Baird, Neil Bulstrode, Jane Chalker, Dragana Josifova, Debra Lomas, Justine O’Hara, Juling Ong, Dyanne Rampling, Paulina Stadnik, Anna Thomas, E. Wedgeworth, Neil J. Sebire, Veronica A. Kinsler
出版 2019Artigo -
9
Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS 由 Veronica A. Kinsler, Anna Thomas, Miho Ishida, Neil Bulstrode, Sam Loughlin, Sandra Hing, Jane Chalker, Kathryn J. McKenzie, Sayeda Abu‐Amero, Olga Slater, Estelle Chanudet, Rodger Palmer, Deborah Morrogh, Philip Stanier, Eugene Healy, Neil J. Sebire, Gudrun E. Moore
出版 2013Artigo -
10
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses 由 Satyamaanasa Polubothu, Lara Al-Olabi, M.C. Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, D. Jiménez‐Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster‐Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antonio Torrelo, Sarah Aylett, Veronica A. Kinsler
出版 2019Carta -
11
Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models 由 Maite Mendióroz, Catherine Do, Xiaoling Jiang, Chunhong Liu, Huferesh K. Darbary, Charles F. Lang, J. P. Lin, Anna Thomas, Sayeda Abu‐Amero, Philip Stanier, Alexis M. Temkin, Alexander Yale, Meng-Min Liu, Yang Li, Martha Salas, Kristi Kerkel, George T. Capone, Wayne Silverman, Yichao Yu, Gudrun E. Moore, Jerzy Węgiel, Benjamin Tycko
出版 2015Artigo -
12
The role and interaction of imprinted genes in human fetal growth 由 Gudrun E. Moore, Miho Ishida, Charalambos Demetriou, Lara Al-Olabi, Lydia J. Leon, Anna Thomas, Sayeda Abu‐Amero, Jennifer M. Frost, Jaime L. Stafford, Chaoqun Yao, Andrew Duncan, Rachel Baigel, Marina Brimioulle, Isabel Iglesias‐Platas, Sophia Apostolidou, Reena Aggarwal, John C. Whittaker, Argyro Syngelaki, K. H. Nicolaides, Lesley Regan, David Monk, Philip Stanier
出版 2015Revisão -
13
ABCA12 Is the Major Harlequin Ichthyosis Gene 由 Anna Thomas, Tom Cullup, Elizabeth E. Norgett, Tara G. Hill, Stephanie Barton, Beverly A. Dale, Eli Sprecher, Eamonn Sheridan, Aileen Taylor, R. Sid Wilroy, Celia D. Delozier, Nigel Burrows, Helen Goodyear, Philip Fleckman, Karen Stephens, Lakshmi Mehta, Rosemarie M. Watson, Regina M. Graham, Roni Wolf, Anne Slavotinek, Madelena Martin, David Bourn, Charles A. Mein, Edel A. O’Toole, David P. Kelsell
出版 2006Artigo -
14
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis 由 Anna Thomas, Zhiqiang Zeng, Jean‐Baptiste Rivière, Ryan F.L. O’Shaughnessy, Lara Al-Olabi, Judith St.-Onge, David J. Atherton, H. Aubert, Lorea Bagazgoitia, S. Barbarot, E. Bourrat, C. Chiavérini, W.K. Chong, Yannis Duffourd, Mary Glover, Leopold Groesser, S. Hadj‐Rabia, Henning Hamm, Rudolf Happle, Imran Mushtaq, J.‐P. Lacour, Regula Waelchli, Marion Wobser, P. Vabres, E. Elizabeth Patton, Veronica A. Kinsler
出版 2016Artigo -
15
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome 由 Anna Thomas, Hywel Williams, Núria Setó‐Salvia, Chiara Bacchelli, Dagan Jenkins, Mary E. O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew Duncan, Yun Jin Pai, Jorge Saraiva, Fabiana Ramos, Bernadette Farren, Dawn E. Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas Wood, Joshua Hersheson, Henry Houlden, Jane A. Hurst, Richard H. Scott, Maria Bitner‐Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier
出版 2014Artigo -
16
A repeating fast radio burst associated with a persistent radio source 由 Niu, C.-H., Aggarwal, K., Li, D., Zhang, X., Chatterjee, S., Tsai, C.-W., Yu, W., Law, C. J., Burke-Spolaor, S., Cordes, J. M., Zhang, Y.-K., Ocker, S. K., Yao, J.-M., Wang, P., Feng, Y., Niino, Y., Bochenek, C., Cruces, M., Connor, L., Jiang, J.-A., Dai, S., Luo, R., Li, G.-D., Miao, C.-C., Niu, J.-R., Anna-Thomas, R., Sydnor, J., Stern, D., Wang, W.-Y., Yuan, M., Yue, Y.-L., Zhou, D.-J., Yan, Z., Zhu, W.-W., Zhang, B.
出版 2022Text -
17
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy 由 Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina Andrews, Paulina Stadnik, Agnel Praveen Joseph, Rachel Knox, Alan Pittman, Graeme M. Clark, William Baird, Neil Bulstrode, Mary Glover, Kristiana Gordon, Darren Hargrave, Susan Huson, Thomas S. Jacques, Greg James, Hannah Kondolf, Loshan Kangesu, Kim M. Keppler‐Noreuil, Muhammad Amjad Khan, Marjorie J. Lindhurst, Mark Lipson, Sahar Mansour, Justine O’Hara, Caroline Mahon, Anda Mosica, Celia Moss, Aditi S. Murthy, Juling Ong, Victoria Parker, Jean‐Baptiste Rivière, Julie C. Sapp, Neil J. Sebire, Rahul Shah, Branavan Sivakumar, Anna Thomas, Alex Virasami, Regula Waelchli, Zhiqiang Zeng, Leslie G. Biesecker, Alex Barnacle, Maya Topf, Robert K. Semple, E. Elizabeth Patton, Veronica A. Kinsler
出版 2018Artigo -
18
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy 由 Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina Andrews, Paulina Stadnik, Agnel Praveen Joseph, Rachel Knox, Alan Pittman, Graeme M. Clark, William M. Baird, Neil Bulstrode, Mary Glover, Kristiana Gordon, Darren Hargrave, Susan Huson, Thomas S. Jacques, Greg James, Hannah Kondolf, Loshan Kangesu, Kim M. Keppler‐Noreuil, Amjad Ali Khan, Marjorie J. Lindhurst, Mark Lipson, Sahar Mansour, Justine O’Hara, Caroline Mahon, Anda Mosica, Celia Moss, Aditi S. Murthy, Juling Ong, Victoria E R Parker, Jean‐Baptiste Rivière, Julie C. Sapp, Neil J. Sebire, Rahul K. Shah, Branavan Sivakumar, Anna Thomas, Alex Virasami, Regula Waelchli, Zhiqiang Zeng, Leslie G. Biesecker, Alex Barnacle, Maya Topf, Robert K. Semple, E. Elizabeth Patton, Veronica A. Kinsler
出版 2018Errata/Corrigenda
相關主題
Medicine
Biology
Genetics
Gene
Mutation
Allele
Pathology
Cancer research
Computer science
KRAS
Neuroblastoma RAS viral oncogene homolog
Psychology
Cancer
DNA methylation
Dermatology
Economics
GNAQ
Gene expression
Genotype
Ichthyosis
Internal medicine
MAPK/ERK pathway
Missense mutation
Phenotype
Psychiatry
Social psychology
Targeted therapy
Advertising
Anatomy
Andrology