Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions von Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A. M., Dauber, Andrew, Sproul, Duncan, Jackson, Andrew P.

Volltext

Thrombotic Microangiopathy in Inverted Formin 2 - Mediated Renal Disease von Challis, Rachel C, Ring, Troels, Xu, Yaobo, Wong, Edwin K S, Flossmann, Oliver, Roberts, Ian S D, Ahmed, Saeed, Wetherall, Michael, Salkus, Giedrius, Brocklebank, Vicky, Fester, Julian, Strain, Lisa, Wilson, Valerie, Wood, Katrina M, Marchbank, Kevin J, Santibanez-Koref, Mauro, Goodship, Timothy H J, Kavanagh, David

Volltext

A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrom... von Challis, Rachel C, Araujo, Geisilaine S R, Wong, Edwin K S, Anderson, Holly E, Awan, Atif, Dorman, Anthony M, Waldron, Mary, Wilson, Valerie, Brocklebank, Vicky, Strain, Lisa, Morgan, B Paul, Harris, Claire L, Marchbank, Kevin J, Goodship, Timothy H J, Kavanagh, David

Volltext

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism von Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark

Volltext

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN von Wong, Edwin K S, Anderson, Holly E, Herbert, Andrew P, Challis, Rachel C, Brown, Paul, Reis, Geisilaine S, Tellez, James O, Strain, Lisa, Fluck, Nicholas, Humphrey, Ann, Macleod, Alison, Richards, Anna, Ahlert, Daniel, Santibanez-Koref, Mauro, Barlow, Paul N, Marchbank, Kevin J, Harris, Claire L, Goodship, Timothy H J, Kavanagh, David

Volltext

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism von Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

Volltext

Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism von Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Ounap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J, O'Driscoll, Mark

Volltext

Safety and immunogenicity of the ChAdOx1 nCoV-19 vaccine against SARS-CoV-2: a preliminary report of a phase 1/2, single-blind, randomised controlled trial von Aley, Parvinder K, Clutterbuck, Elizabeth A, Dold, Christina, Heath, Paul, Makinson, Rebecca, Pollock, Katrina M, Ramasamy, Maheshi, Robinson, Hannah, Douglas, Alexander D, Lambe, Teresa, Aboagye, Jeremy, Allen, Elizabeth, Anslow, Rachel, Baker, Philip, Bates, Louise, Batten, Alexander, Berry, Lisa, Beveridge, Amy, Bingham, Tracey, Brunt, Emily, Burbage, Jamie, Carroll, Miles W., Coombes, Naomi S., Cooper, Rachel, Crocker, Wendy E.M., Di Maso, Claudio, Dong, Tao, Douglas, Naomi, Downing, Charlotte, Elias, Sean C., Emary, Katherine R.W., Fletcher, Clare, Ford, Karen J., Fox, Polly, Frater, John, Galiza, Eva, Godwin, Kerry, Gorini, Giacomo, Goulston, Lyndsey, Gracie, Lara, Halwe, Sandro, Hamilton, Elizabeth, Hamlyn, Joseph, Harding, Irasha, Head, Ian, Hodgson, Susanne H.C., Howell, Nicola, Isitt, Catherine, Kailath, Reshma, Karampatsas, Konstantinos, Kerridge, Simon, Khan, Uzma, Kingham-Page, Lucy, Knott, Daniel, Koleva, Stanislava, Kupke, Alexandra, Lawrie, Alison M., Lee, Arlene, Lees, Emily A, Lias, Amelia M., Linder, Aline, Lopez Ramon, Raquel, Marlow, Emma, Marshall, Julia L., Meddaugh, Gretchen, Moore, Maria, Moran, Edward, Morris, Susan Jane, Morshead, Gertraud, Muller, Jilly, Munro, Alasdair, Noé, Andrés, O'Brien, Katie, O'Connor, Daniel, Oguti, Blanché, Oliver, Jennifer L., Osborn, Mairead, Pacurar, Mihaela, Pearce, Jennifer, Pfafferott, Katja, Poulton, Ian, Riddell, Amy, Sajjad, Sara, Sanders, Helen, Sanders, Katherine, Selby, Beatrice, Shelton, Holly, Song, Rinn, Stefanova, Elena, Tait, Moira, Talbot, Helen, Themistocleous, Yrene, Thomas, Merin, Towner, James, Turkentine, Kate, Turner, Sally, Veighey, Kristin, Vichos, Iason, Worth, Andrew T., Yau, Yasmine

Volltext

Safety and immunogenicity of ChAdOx1 nCoV-19 vaccine administered in a prime-boost regimen in young and old adults (COV002): a single-blind, randomised, controlled, phase 2/3 trial von Folegatti, Pedro M, Bibi, Sagida, Chappell, Harry, Fedosyuk, Sofiya, Gbesemete, Diane, Kelly, Elizabeth J, Makinson, Rebecca, Rawlinson, Thomas, Ross-Russell, Amy L, Saich, Stephen, Smith, Catherine C, Tarrant, Richard, Thomas, Kelly M, Warren, Sarah C, Lambe, Teresa, Adams, Kelly, Ali, Aabidah, Allen, Lauren, Baker, Natalie, Barrett, Kelly, Bellamy, Duncan, Berg, Adam, Beveridge, Amy, Bewley, Kevin, Bijker, Else M., Boland, Elena, Bormans, Daan, Bower, Thomas, Boyd, Amy, Brenner, Tanja, Buttigieg, Karen R., Cao, Michelangelo, Chapman, David, Chelysheva, Irina, Cifuentes, Liliana, Collins, Sarah, Conlon, Christopher P., Davis, Judith, Dong, Tao, Drake, Jonathan, Fisher, Richard, Garlant, Harriet, Gavrila, Madita, Gibbons, Felicity, Gill, Hardeep, Hart, Thomas C., Hartnell, Birgit, Haskell, Louise, Hawkins, Sophia, Hermosin Herrera, Macarena, Hill, David, Hill, Jennifer, Howes, Jessica, Jackson, Susan, Joshi, Amar, Kelly, Dearbhla M., King, Lloyd D.W., Knott, Daniel, Lee, Kim Y.N., Leung, Stephanie, Liu, Shuchang, Loew, Lisa, Madhavan, Meera, Marius, Phedra, Marshall, Julia L., Martin, Jane, Moore, Maria, Morris, Susan J., O'Reilly, Peter John, Owino, Nelly, Patel, Bhumika, Patrick-Smith, Maia, Perring, James, Phillips, Daniel J., Poulton, Ian, Presland, Laura, Pulido, David, Rajapaska, Durga, Ramos Lopez, Fernando, Rollier, Christine S., Romani, Rossana, Sedik, Cynthia, Seddiqi, Samiullah, Segireddy, Rameswara R., Sharpe, Hannah R., Silva-Reyes, Laura, Smith, David J., Smith, Daniel C., Smith, Nicholas, Stockley, David, Summerton, Eloise, Szigeti, Anna, Taylor, Ursula, Tonks, Susan, Tree, Julian A., Truby, Adam, Varughese, Rachel, Woodyer, Mark, Worth, Andrew T., Yao, Xin Li

Volltext

Postoperative systemic inflammation after major abdominal surgery: patient-centred outcomes von Bain, C R, Myles, P S, Martin, C, Wallace, S, Shulman, M A, Corcoran, T, Bellomo, R, Peyton, P, Story, D A, Leslie, K, Forbes, A

Volltext

CANDELS: THE COSMIC ASSEMBLY NEAR-INFRARED DEEP EXTRAGALACTIC LEGACY SURVEY von Grogin, Norman A., Kocevski, Dale D., Faber, S. M., Ferguson, Henry C., Koekemoer, Anton M., Riess, Adam G., Acquaviva, Viviana, Alexander, David M., Almaini, Omar, Ashby, Matthew L. N., Barden, Marco, Bell, Eric F., Bournaud, Frédéric, Brown, Thomas M., Caputi, Karina I., Casertano, Stefano, Cassata, Paolo, Castellano, Marco, Challis, Peter, Chary, Ranga-Ram, Cheung, Edmond, Cirasuolo, Michele, Conselice, Christopher J., Cooray, Asantha Roshan, Croton, Darren J., Daddi, Emanuele, Dahlen, Tomas, Davé, Romeel, de Mello, Duília F., Dekel, Avishai, Dickinson, Mark, Dolch, Timothy, Donley, Jennifer L., Dunlop, James S., Dutton, Aaron A., Elbaz, David, Fazio, Giovanni G., Filippenko, Alexei V., Finkelstein, Steven L., Fontana, Adriano, Gardner, Jonathan P., Garnavich, Peter M., Gawiser, Eric, Giavalisco, Mauro, Grazian, Andrea, Guo, Yicheng, Hathi, Nimish P., Häussler, Boris, Hopkins, Philip F., Huang, Jia-Sheng, Huang, Kuang-Han, Jha, Saurabh W., Kartaltepe, Jeyhan S., Kirshner, Robert P., Koo, David C., Lai, Kamson, Lee, Kyoung-Soo, Li, Weidong, Lotz, Jennifer M., Lucas, Ray A., Madau, Piero, McCarthy, Patrick J., McGrath, Elizabeth J., McIntosh, Daniel H., McLure, Ross J., Mobasher, Bahram, Moustakas, Leonidas A., Mozena, Mark, Nandra, Kirpal, Newman, Jeffrey A., Niemi, Sami-Matias, Noeske, Kai G., Papovich, Casey J., Pentericci, Laura, Pope, Alexandra, Primack, Joel R., Rajan, Abhijith, Ravindranath, Swara, Reddy, Naveen A., Renzini, Alvio, Rix, Hans-Walter, Robaina, Aday R., Rodney, Steven A., Rosario, David J., Rosati, Piero, Salimbeni, Sara, Scarlata, Claudia, Siana, Brian, Simard, Luc, Smidt, Joseph, Somerville, Rachel S., Spinrad, Hyron, Straughn, Amber N., Strolger, Louis-Gregory, Telford, Olivia, Teplitz, Harry I., Trump, Jonathan R., van der Wel, Arjen, Villforth, Carolin, Wechsler, Risa H.

Volltext

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency von Logan, Clare V, Murray, Jennie E, Parry, David A, Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, SGP Consortium, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S, Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E, Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A, Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O'Connell, Susan M, Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A, Sherlock, Mark, Syverson, Erin, White, Perrin C, Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B, Semple, Robert K, Boulton, Simon J, Rios, Jonathan J, Jackson, Andrew P

Volltext bestellen