Výsledky vyhledávání - Burkitt Wright, Emma

Brittle cornea syndrome: current perspectives Autor Walkden, Andrew, Burkitt-Wright, Emma, Au, Leon

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Brittle cornea syndrome: current perspectives [Response to Letter] Autor Walkden, Andrew, Burkitt-Wright, Emma, Au, Leon

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Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome Autor Burkitt Wright, Emma, Donnai, Dian, Johnson, Diana, Clayton-Smith, Jill

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Autism Spectrum Disorder Symptom Profile Across the RASopathies Autor Geoffray, Marie-Maude, Falissard, Bruno, Green, Jonathan, Kerr, Browyn, Evans, D. Gareth, Huson, Susan, Burkitt-Wright, Emma, Garg, Shruti

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis Autor Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R

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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions Autor Burkitt Wright, Emma M.M., Perveen, Rahat, Clayton, Peter E., Hall, Catherine M., Costa, Teresa, Procter, Annie M., Giblin, Carol A., Donnai, Dian, Black, Graeme C.

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Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance Autor Clayton-Smith, Jill, Walters, Sarah, Hobson, Emma, Burkitt-Wright, Emma, Smith, Rupert, Toutain, Annick, Amiel, Jeanne, Lyonnet, Stanislas, Mansour, Sahar, Fitzpatrick, David, Ciccone, Roberto, Ricca, Ivana, Zuffardi, Orsetta, Donnai, Dian

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Brittle cornea syndrome: recognition, molecular diagnosis and management Autor Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM

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Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val Autor Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components Autor Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia

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Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 Autor Pobric, Gorana, Taylor, Jason R., Ramalingam, Hemavathy M., Pye, Emily, Robinson, Louise, Vassallo, Grace, Jung, JeYoung, Bhandary, Misty, Szumanska-Ryt, Karolina, Theodosiou, Louise, Evans, D. Gareth, Eelloo, Judith, Burkitt-Wright, Emma, Hulleman, Johan, Green, Jonathan, Garg, Shruti

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline Autor Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Burkitt Wright, Emma M. M., Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Rajpert-De Meyts, Ewa, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne

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Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues Autor Rauen, Katherine A., Huson, Susan M., Burkitt-Wright, Emma, Evans, D Gareth, Farschtschi, Said, Ferner, Rosalie E, Gutmann, David H., Hanemann, C Oliver, Kerr, Bronwyn, Legius, Eric, Parada, Luis F, Patton, Michael, Peltonen, Juha, Ratner, Nancy, Riccardi, Vincent M., van der Vaart, Thijs, Vikkula, Miikka, Viskochil, David H., Zenker, Martin, Upadhyaya, Meena

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance Autor Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance Autor Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome Autor Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study Autor Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena

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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK Pathway Autor Stevenson, David A., Schill, Lisa, Schoyer, Lisa, Andresen, Brage S., Bakker, Annette, Bayrak-Toydemir, Pinar, Burkitt-Wright, Emma, Chatfield, Kathryn, Elefteriou, Florent, Elgersma, Ype, Fisher, Michael J., Franz, David, Gelb, Bruce D., Goriely, Anne, Gripp, Karen W., Hardan, Antonio Y., Keppler-Noreuil, Kim M., Kerr, Bronwyn, Korf, Bruce, Leoni, Chiara, McCormick, Frank, Plotkin, Scott R., Rauen, Katherine A., Reilly, Karlyne, Roberts, Amy, Sandler, Abby, Siegel, Dawn, Walsh, Karin, Widemann, Brigitte C.

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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders Autor Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David

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The sixth international RASopathies symposium: Precision medicine–From promise to practice Autor Gripp, Karen W., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Bennett, Anton M., Blaser, Susan, Brown, Amanda, Burdine, Rebecca, Burkitt-Wright, Emma, Castel, Pau, Darilek, Sandra, Dias, Alwyn, Dyer, Tuesdi, Ellis, Michelle, Erickson, Gregg, Gelb, Bruce D., Green, Tamar, Gross, Andrea, Ho, Alan, Holder, James Lloyd, Inoue, Shin-Ichi, Jelin, Angie C., Kennedy, Annie, Klein, Richard, Kontaridis, Maria I., Magoulas, Pilar, McConnell, Darryl B., McCormick, Frank, Neel, Benjamin G., Prada, Carlos E., Rauen, Katherine A., Roberts, Amy, Rodriguez-Viciana, Pablo, Rosen, Neal, Rumbaugh, Gavin, Sablina, Anna, Solman, Maja, Tartaglia, Marco, Thomas, Angelica, Timmer, William C., Venkatachalam, Kartik, Walsh, Karin S., Wolters, Pamela L., Yi, Jae-Sung, Zenker, Martin, Ratner, Nancy

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