Search Results - Calder, Alistair
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A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication by Al-Yassin, Amina, Calder, Alistair D., Harrison, Mike, Lester, Tracy, Lord, Helen, Oldridge, Michael, Watkins, Sophie, Keen, Richard, Wakeling, Emma L.
Published 2018Text -
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Is chest CT useful in newborn screened infants with cystic fibrosis at 1 year of age? by Thia, Lena P, Calder, Alistair, Stocks, Janet, Bush, Andrew, Owens, Catherine M, Wallis, Colin, Young, Carolyn, Sullivan, Yvonne, Wade, Angie, McEwan, Angus, Brody, Alan S
Published 2014Text -
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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes by Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria
Published 2017Text -
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Postinfectious Bronchiolitis Obliterans in Children: Diagnostic Workup and Therapeutic Options: A Workshop Report by Jerkic, Silvija-Pera, Brinkmann, Folke, Calder, Alistair, Casey, Alicia, Dishop, Megan, Griese, Matthias, Kurland, Geoffrey, Niemitz, Mandy, Nyilas, Sylvia, Schramm, Dirk, Schubert, Ralf, Tamm, Michael, Zielen, Stefan, Rosewich, Martin
Published 2020Text -
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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era by Sabir, Ataf H., Morley, Elizabeth, Sheikh, Jameela, Calder, Alistair D., Beleza-Meireles, Ana, Cheung, Moira S., Cocca, Alessandra, Jansson, Mattias, Lillis, Suzanne, Patel, Yogen, Yau, Shu, Hall, Christine M., Offiah, Amaka C., Irving, Melita
Published 2021Text -
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Abdominal US in Pediatric Inflammatory Multisystem Syndrome Associated with SARS-CoV-2 (PIMS-TS) by Meshaka, Riwa, Whittam, Fern C., Guessoum, Myriam, Eleti, Saigeet, Shelmerdine, Susan C., Arthurs, Owen J., McHugh, Kieran, Hiorns, Melanie P., Humphries, Paul D., Calder, Alistair D., Easty, Marina J., Gaynor, Edward P., Watson, Tom
Published 2021Text -
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An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter by Davies, Gwyneth, Stanojevic, Sanja, Raywood, Emma, Duncan, Julie A., Stocks, Janet, Lum, Sooky, Bush, Andrew, Viviani, Laura, Wade, Angie, Calder, Alistair, Owens, Catherine M., Goubau, Christophe, Carr, Siobhán B., Bossley, Cara J., Pao, Caroline, Aurora, Paul
Published 2020Text -
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SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid by Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.
Published 2013Text -
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Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease by Jacob, Joseph, Owens, Catherine M., Brody, Alan S., Semple, Thomas, Watson, Tom A., Calder, Alistair, Garcia-Peña, Pilar, Toma, Paolo, Devaraj, Anand, Walton, Henry, Moreno-Galdó, Antonio, Aurora, Paul, Rice, Alexandra, Vece, Timothy J., Cunningham, Steve, Altmann, Andre, Wells, Athol U., Nicholson, Andrew G., Bush, Andrew
Published 2019Text -
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3D printing from microfocus computed tomography (micro-CT) in human specimens: education and future implications by Shelmerdine, Susan C, Simcock, Ian C, Hutchinson, John Ciaran, Aughwane, Rosalind, Melbourne, Andrew, Nikitichev, Daniil I, Ong, Ju-ling, Borghi, Alessandro, Cole, Garrard, Kingham, Emilia, Calder, Alistair D, Capelli, Claudio, Akhtar, Aadam, Cook, Andrew C, Schievano, Silvia, David, Anna, Ourselin, Sebastian, Sebire, Neil J, Arthurs, Owen J
Published 2018Text -
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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability by Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Published 2021Text