P222 Multi-Disciplinary Team Attitudes Towards End-of-Life Care in Severe COPD von Turnpenny, B, Shepherd, K, Barraclough, R, Haskins, C

Volltext

M28 Respiratory Clinicians’ Experiences of End-of-Life Care in Idiopathic Pulmonary Fibrosis von Turnpenny, B, Shepherd, K, Borrill, Z

Volltext

S106 Understanding the barriers and enablers to implementing a smoke free site across acute care trusts in Greater Manchester; results of a hospital staff survey von Clegg, H, Howle, F, Groom, K, Moore, R, Grundy, S, Tempowski, A, Turnpenny, B, Law, H, Sundar, R, Butt, A, Abdelaziz, M, Evison, M

Volltext

Direct Access Minor Surgery service--patient satisfaction and effectiveness von Bandyopadhyay, D, Turnpenny, B, Dewar, E P

Volltext

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype von Sparrow, D.B., Chapman, G., Wouters, M.A., Whittock, N.V., Ellard, S., Fatkin, D., Turnpenny, P.D., Kusumi, K., Sillence, D., Dunwoodie, S.L.

Volltext

Rationalising the Policy Mess? Ex Ante Policy Assessment and the Utilisation of Knowledge in the Policy Process von Hertin, Julia, Turnpenny, John, Jordan, Andrew, Nilsson, Mans, Russel, Duncan, Nykvist, Björn

Volltext

The Phenotypic Continuum of ATP1A3 -Related Disorders von Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A., Holder-Espinasse, Muriel, Fry, Andrew E., Németh, Andrea H., Tofaris, George K., Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R., Splitt, Miranda, Turnpenny, Peter D., Demetriou, Demetria, Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Agrawal, Pankaj B., Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M., Kurian, Manju A., Cross, J. Helen, Balasubramanian, Meena

Volltext

RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS von FRATTER, C, RAMAN, P, POULTON, J, BRIERLEY, C, STAUNTON, T. G, TURNPENNY, P. D, SCHAEFER, A. M, CHINNERY, P. F, HORVATH, R, TURNBULL, D. M, GORMAN, G. S, TAYLOR, R. W, ALSTON, C. L, BLAKELY, E. L, CRAIG, K, SMITH, C, EVANS, J, SELLER, A, CZERMIN, B, HANNA, M. G

Volltext

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission von Fasham, James, Huebner, Antje K, Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B, Leslie, Joseph S, Ubeyratna, Nishanka, Mancini, Grazia M S, van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B, Shamseldin, Hanan E, Gleeson, Joseph G, Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S, Wakeling, Matthew N, McGavin, Lucy, Turnpenny, Peter D, Alkuraya, Fowzan S, Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H, Baple, Emma L, Hübner, Christian A

Volltext

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function von Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., Schimmel, Paul

Volltext

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome von Cornier, Alberto S., Staehling-Hampton, Karen, Delventhal, Kym M., Saga, Yumiko, Caubet, Jean-Francois, Sasaki, Nobuo, Ellard, Sian, Young, Elizabeth, Ramirez, Norman, Carlo, Simon E., Torres, Jose, Emans, John B., Turnpenny, Peter D., Pourquié, Olivier

Volltext

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder von Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.

Volltext

Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome von Callaghan, Mary B., Hadden, Rob, King, Jon S., Lachlan, Katherine, Dijk, Fleur S., Turnpenny, Peter D.

Volltext

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phe... von Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.

Volltext

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans von Whittock, Neil V., Sparrow, Duncan B., Wouters, Merridee A., Sillence, David, Ellard, Sian, Dunwoodie, Sally L., Turnpenny, Peter D.

Volltext

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features von Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.

Volltext

HRPT2 , encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome von Carpten, J.D, Larsson, C, Robbins, C.M, Villablanca, A, Forsberg, L, Presciuttini, S, Bailey-Wilson, J, Simonds, W.F, Gillanders, E.M, Kennedy, A.M, Chen, J.D, Agarwal, S.K, Sood, R, Jones, M.P, Moses, T.Y, Haven, C, Petillo, D, Leotlela, P.D, Harding, B, Cameron, D, Pannett, A.A, Höög, A, Heath, H, James-Newton, L.A, Robinson, B, Zarbo, R.J, Cavaco, B.M, Wassif, W, Perrier, N.D, Rosen, I.B, Kristoffersson, U, Turnpenny, P.D, Farnebo, L.-O, Besser, G.M, Jackson, C.E, Morreau, H, Trent, J.M, Thakker, R.V, Marx, S.J, Teh, B.T, Hobbs, M.R

Volltext

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

Volltext

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data von Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J., Dean, John, Giuffrida, Maria G., Bernardini, Laura, Varghese, Vinod, Shannon, Nora L., Harrison, Rachel E., Lam, Wayne W. K., McKee, Shane, Turnpenny, Peter D., Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C., Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A., Chung, Wendy K., Scott, Daryl A.

Volltext

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis von Sparrow, Duncan B, Sillence, David, Wouters, Merridee A, Turnpenny, Peter D, Dunwoodie, Sally L

Volltext