Expanding the phenotype in argininosuccinic aciduria: need for new therapies von Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.

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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase von Mills, Philippa B., Surtees, Robert A.H., Champion, Michael P., Beesley, Clare E., Dalton, Neil, Scambler, Peter J., Heales, Simon J.R., Briddon, Anthony, Scheimberg, Irene, Hoffmann, Georg F., Zschocke, Johannes, Clayton, Peter T.

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IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I von Ghosh, Arunabha, Mercer, Jean, Mackinnon, Sabrina, Yue, Wyatt W, Church, Heather, Beesley, Clare E, Broomfield, Alex, Jones, Simon A, Tylee, Karen

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II von Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) von Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.

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Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry von Beesley, Clare E., Young, Elisabeth P., Finnegan, Niamh, Jackson, Marie, Mills, Kevin, Vellodi, Ashok, Cleary, Maureen, Winchester, Bryan G.

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Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID) von Beesley, Clare E., Concolino, Daniela, Filocamo, Mirella, Winchester, Bryan G., Strisciuglio, Pietro

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II von Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

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Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID) von Beesley, Clare E., Concolino, Daniela, Filocamo, Mirella, Winchester, Bryan G., Strisciuglio, Pietro

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Case of X-linked myopathy with excessive autophagy von Chow, Gabriel, Beesley, Clare E, Robson, Keith, Winchester, Bryan G, Holton, Janice L

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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis I von Ghosh, Arunabha, Mercer, Jean, Mackinnon, Sabrina, Yue, Wyatt W, Church, Heather, Beesley, Clare E, Broomfield, Alexander, Jones, Simon, Tylee, Karen

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Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations von BEESLEY, Clare E, MEANEY, Cathy A, GREENLAND, Gavin, ADAMS, Vanessa, VELLODI, Ashok, YOUNG, Elisabeth P, WINCHESTER, Bryan G

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The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II von Beesley, Clare E., Child, Anne H., Yacoub, Magdi H.

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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations von BEESLEY, CLARE E, YOUNG, ELISABETH P, VELLODI, ASHOK, WINCHESTER, BRYAN G

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A case of X Linked myopathy with autophagy von Chow, G, Beesley, Clare E, Winchester, Bryan G, Holton, Janice

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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) von Beesley, C E, Young, E P, Vellodi, A, Winchester, B G

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Cloning and nucleotide sequence of the gene encoding dinitrogenase reductase ( nifH) from the cyanobacterium Nostoc 6720 von Beesley, Clare E., Smith, R.John, Temple, Stephen J., Lea, Peter J.

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Key mechanisms by which post-ICU activities can improve in-ICU care: results of the international THRIVE collaboratives von Haines, Kimberley J., Sevin, Carla M., Hibbert, Elizabeth, Boehm, Leanne M., Aparanji, Krishna, Bakhru, Rita N., Bastin, Anthony J., Beesley, Sarah J., Butcher, Brad W., Drumright, Kelly, Eaton, Tammy L., Farley, Thomas, Firshman, Penelope, Fritschle, Andrew, Holdsworth, Clare, Hope, Aluko A., Johnson, Annie, Kenes, Michael T., Khan, Babar A., Kloos, Janet A., Kross, Erin K., MacLeod-Smith, Belinda J., Mactavish, Pamela, Meyer, Joel, Montgomery-Yates, Ashley, Quasim, Tara, Saft, Howard L., Slack, Andrew, Stollings, Joanna, Weinhouse, Gerald, Whitten, Jessica, Netzer, Giora, Hopkins, Ramona O., Mikkelsen, Mark E., Iwashyna, Theodore J., McPeake, Joanne

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer von Lindstrom, Sara, Dennis, Joe, Maranian, Mel J, Brand, Judith S, Nordestgaard, Børge G, Flyger, Henrik, Rahman, Nazneen, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru A, Aaltonen, Kirsimari, Ahsan, Habibul, John, Esther M, Gammon, Marilie D, Ursin, Giske, Schmidt, Daniel F, Gapstur, Susan M, Gaudet, Mia M, Diver, W Ryan, Schumacher, Fredrick, Hoover, Robert N, Lambrechts, Diether, Wildiers, Hans, van Limbergen, Erik, Broeks, Annegien, Cornelissen, Sten, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Meijers-Heijboer, Hanne, Ito, Hidemi, Iwata, Hiroji, Guénel, Pascal, Sanchez, Marie, Marme, Frederik, Surowy, Harald, Sohn, Christof, Van Den Berg, David, Benitez, Javier, Lu, Wei, Gao, Yu-Tang, Andrulis, Irene L, Knight, Julia A, Mulligan, Anna Marie, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Lindblom, Annika, Hollestelle, Antoinette, Collée, J Margriet, Blot, William, Signorello, Lisa B, Cai, Qiuyin, Hou, Ming-Feng, Kristensen, Vessela N, Milne, Roger L, McLean, Catriona, Peeters, Petra, Khaw, Kay-Tee, Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Meindl, Alfons, Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Siriwanarangsan, Pornthep, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A, Beckmann, Matthias W, Haeberle, Lothar, Brenner, Hermann, Stegmaier, Christa, Ashworth, Alan, Schoemaker, Minouk J, Brinton, Louise, Zheng, Wei, Grip, Mervi, Brauch, Hiltrud, Radice, Paolo, Manoukian, Siranoush, Bernard, Loris, Dörk, Thilo, Hartikainen, Jaana M, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J, Brennan, Paul, McKay, James, Neuhausen, Susan L, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S, Herrero, Daniel, Simard, Jacques, Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F

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Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers von Houlihan, Catherine F, Kelly, Gavin, Spyer, Moira J, Nastouli, Eleni, Allen, Zoe, Ambrose, Karen, Barns-Jenkins, Caitlin, Basu, Souradeep, Buck, Michael D, Cardoso, Ana, Carter, Nick, Carvalho, Luiz, Chen, Qu, Churchward, Laura, Cottrell, Sally, Davison, Dara, Debaisieux, Solene, Diaz-Romero, Monica, Diring, Jessica, Driscoll, Paul C, Edwards, Amelia, Evangelopoulos, Dimitrios, Ferron, Aaron, Fitz, Dan, Fleming, James, Gaiba, Alessandra, Goldstone, Robert, Halldorsson, Steinar, Hoskins, Beth, Houlihan, Catherine F, Hoyle, Jacqueline, Htun, Mint R, Hubank, Michael, Hughes, Deborah, Instrell, Rachael, Jamal-Hanjani, Mariam, Johnson, Mark, Kotzampaltiris, Paul, Kousis, Konstantinos, Kucharska, Ania, Lee, Stacey-Ann, Lu, Wei-Ting, MacRae, James I, McCoy, Laura E, Minutti, Carlos M, Molina-Arcas, Miriam, Moore, David, Moraiti, Anastasia, Nutan, Savita, Oedekoven, Caroline, O'Neill, Olga, Osborne, Neil, Papayannopoulos, Venizelos, Patel, Yogen, Paun, Oana, Perez Caballero, Ana, Perez-Lloret, Jimena, Pollitt, Marc, Shah Punatar, Rajvee, Ramaprasad, Abhinay, Richardson, Kayleigh, Ridewood, Sophie, Rossi, Alice, Rowan, Andrew, Sahai, Erik, Sawyer, Chelsea, Spyer, Moira J, Steel, Louisa, Strange, Amy, Swanton, Charles, Tautz-Davis, Zoe H, Taylor, Gunes, Toolan-Kerr, Patrick, Torelli, Francesca, Toteva, Tea, Ule, Jernej, Wenman, Catharina, Williams, Matthew J, Wright, Joshua, Xiang, Zheng, Matthews, Rebecca, Severn, Abigail, Michie, Susan, Shahmanesh, Maryam, Lukha, Hinal, Davies, Claudia, Williams, Bethany, Riddell, Andrew, Bartolovic, Kerol, Russell, Emma, Carr, Lotte, Crayton, Elise, Meyer, Carly, Vora, Nina, Stoltenberg, Andrea, Byrne, Tom, Gilson, Richard, Kelly, Gavin, Roberts, Fiona, Hatipoglu, Emine

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