HYACINTHACEAE von Crouch, N. R., Williams, V. L., Edwards, T. J., Brueton, V. J.

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Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth von Nieminen, Pekka, Morgan, Neil V., Fenwick, Aimée L., Parmanen, Satu, Veistinen, Lotta, Mikkola, Marja L., van der Spek, Peter J., Giraud, Andrew, Judd, Louise, Arte, Sirpa, Brueton, Louise A., Wall, Steven A., Mathijssen, Irene M.J., Maher, Eamonn R., Wilkie, Andrew O.M., Kreiborg, Sven, Thesleff, Irma

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Large-scale discovery of novel genetic causes of developmental disorders von van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland von Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.

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Strategies to improve retention in randomised trials: a Cochrane systematic review and meta-analysis von Brueton, V C, Tierney, J F, Stenning, S, Meredith, S, Harding, S, Nazareth, I, Rait, G

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

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Best practice guidance for the use of strategies to improve retention in randomised trials developed from two consensus workshops von Brueton, V, Stenning, S.P, Stevenson, F, Tierney, J, Rait, G

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome von Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M.C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E.S, Tolmie, J.L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Brueton, L, Sanchez del Pozo, J, Muñoz, E, Gennery, A.R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J.M, Lehmann, A.R, Sarasin, A, Dollfus, H

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype von Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

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Group cognitive behavioural treatment for low-back pain in primary care: a randomised controlled trial and cost-effectiveness analysis von Lamb, Sarah E, Prof, Hansen, Zara, MCSP, Lall, Ranjit, PhD, Castelnuovo, Emanuela, MSc, Withers, Emma J, Nichols, Vivien, MRes, Potter, Rachel, MSc, Underwood, Martin R, Prof

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth von Loveday, Chey, Tatton-Brown, Katrina, Clarke, Matthew, Westwood, Isaac, Renwick, Anthony, Ramsay, Emma, Nemeth, Andrea, Campbell, Jennifer, Joss, Shelagh, Gardner, McKinlay, Zachariou, Anna, Elliott, Anna, Ruark, Elise, van Montfort, Rob, Rahman, Nazneen

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects von Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivier, Fritz, Ann-Kristina, Wolfer, David P, Schröter, Aileen, Bosshard, Giovanna, Rudin, Markus, Koester, Christina, Crestani, Florence, Seebeck, Petra, Boddaert, Nathalie, Prescott, Katrina, Hines, Rochelle, Moss, Steven J, Fritschy, Jean-Marc, Munnich, Arnold, Amiel, Jeanne, Brown, Steven A, Tyagarajan, Shiva K, Colleaux, Laurence

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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Use of strategies to improve retention in primary care randomised trials: a qualitative study with in-depth interviews von Brueton, V C, Stevenson, F, Vale, C L, Stenning, S P, Tierney, J F, Harding, S, Nazareth, I, Meredith, S, Rait, G

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data von Aitken, Stuart, McRae, Jeremy, Kini, Usha, Parker, Michael J., Joss, Shelagh, Scott, Richard H., Hurles, Matthew E., FitzPatrick, David R., Morley, K.I., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Krishnappa, N., Mason, L.E., Middleton, A., Prigmore, E., Tivey, A.R., Akawi, N., Andrews, R., Armstrong, R., Balasubramanian, M., Banerjee, R., Baty, D., Bernhard, B., Blair, E., Bourn, D., Brady, A., Brewer, C., Burn, J., Connell, F., Cooper, N., Cross, G., Dixit, A., Ellis, P., Fendick, T., Fisher, R., Greenhalgh, L., Hawkins, R., Hobson, E., Holden, S., Holder, S., Hurst, J., Ingram, S., Jarvis, J., Johnson, D., Joss, S., Kaemba, B., Kirby, G., Kraus, A., Kumar, D., Lim, D., Lowther, G., Marks, K., Maye, U., McConnell, V., McGowan, R., McMullan, D.J., Metcalfe, K., Mohammed, S., Nevitt, L., Newbury-Ecob, R., Ogilvie, C., Paterson, J., Payne, S., Porteous, D., Raymond, L., Roberts, E., Roberts, G., Roberts, P., Ross, A., Saggar, A., Sandford, R., Schweiger, S., Scott, C., Selby, A., Seller, A., Shears, D., Singzon, R., Smith, B., Sneddon, L., Stewart, F., Stewart, H., Suri, M., Swaminathan, G.J., Sweeney, E., Tolmie, J., Turner, C., Tysoe, C., Vasudevan, P., Vogt, J., Waters, J., Wellesley, D., Widaa, S., Wilcox, S., Williams, N., Yang, F., Wright, C.F., Barrett, J.C., Hurles, M.E.

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A multicentred randomised controlled trial of a primary care-based cognitive behavioural programme for low back pain. The Back Skills Training (BeST) trial von Lamb, S E, Lall, R, Hansen, Z, Castelnuovo, E, Withers, E J, Nichols, V, Griffiths, F, Potter, R, Szczepura, A, Underwood, M

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Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study von McMullan, Dominic J, Bonin, Michael, Hehir-Kwa, Jayne Y, de Vries, Bert B.A, Dufke, Andreas, Rattenberry, Eleanor, Steehouwer, Marloes, Moruz, Luminita, Pfundt, Rolph, de Leeuw, Nicole, Riess, Angelika, Altug-Teber, Özge, Enders, Herbert, Singer, Sylke, Grasshoff, Ute, Walter, Michael, Walker, Judith M, Lamb, Catherine V, Davison, E. Val, Brueton, Louise, Riess, Olaf, Veltman, Joris A

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Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy von VIPRAKASIT, Vip, GIBBONS, Richard J, LEHMANN, Alan R, HIGGS, Douglas R, BROUGHTON, Bernard C, TOLMIE, John L, BROWN, Donald, LUNT, Peter, WINTER, Robin M, MARINONI, Stefano, STEFANINI, Miria, BRUETON, Louise

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Mutations in RNF135 , a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth von Rahman, Nazneen, Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier, Malik, Mohsin, Mansour, Sahar, Reid, Evan, Cormier-Daire, Valerie, Cole, Trevor, Childhood Overgrowth Collaboration, The

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype von Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, González-Meneses López, A, Casalone, R, Weber, A, Brueton, L A, Delicado Navarro, A, Palomares Bralo, M, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

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