An empirical genetic assessment of the severity of the northern elephant seal population bottleneck von Weber, DianaS, Stewart, Brent S., Garza, J.Carlos, Lehman, Niles

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14-3-3 targets keratin intermediate filaments to mechanically sensitive cell-cell contacts von Mariani, Richard A., Paranjpe, Shalaka, Dobrowolski, Radek, Weber, Gregory F.

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Management of patients with synchronous liver metastases of colorectal cancer. Clinical practice guidelines. Guidelines of the French society of gastrointestinal surgery (SFCD) and... von Zalinski, S, Mariette, C, Farges, O

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Prevalence and architecture of de novo mutations in developmental disorders von McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

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Comparison of Airway Pressure Release Ventilation to High-Frequency Oscillatory Ventilation in Neonates with Refractory Respiratory Failure von Arya, Shreyas, Kingma, Melissa L., Dornette, Stacey, Weber, Amy, Bardua, Cathy, Mierke, Sarah, Kingma, Paul S.

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders von Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study von Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R, Bateman, Mark, Best, Sunayna K, Campbell, Carolyn, Carey, Georgina, Chitty, Lyn S, Cilliers, Deirdre, Cohen, Kelly, Collingwood, Emma, Constantinou, Panayiotis, Cresswell, Lara, Delmege, Catherine, Edwards, Sandra L, Ellis, Richard, Evans, Jerry, Everett, Thomas, Pinto, Clare F, Forrester, Natalie, Fowler, Emma, Gardiner, Carol, Hamilton, Susan, Healey, Karen, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Hudson, Rebecca, Hurles, Matthew E, Jenkins, Lucy, Keelagher, Rebecca, Kilby, Mark D, Lester, Tracey, Lewis, Rebecca, Lord, Jenny, Maher, Eamonn R, Marton, Tamas, McMullan, Dominic J, Mehta, Sarju, Mellis, Rhiannon, Newbury-Ecob, Ruth, Park, Soo-Mi, Parker, Michael, Prescott, Katrina, Prigmore, Elena, Quarrell, Oliver W, Quinlan-Jones, Elizabeth, Ramsden, Simon C, Rinck, Gabriele, Robart, Sarah, Roberts, Eileen, Rowland, Jayne, Steer, James, Tapon, Dagmar, Taylor, Emma J, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Williams, Denise, Wilson, Elizabeth

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Procalcitonin-Guided Use of Antibiotics for Lower Respiratory Tract Infection von Huang, David T, Yealy, Donald M, Filbin, Michael R, Brown, Aaron M, Chang, Chung-Chou H, Doi, Yohei, Donnino, Michael W, Fine, Jonathan, Fine, Michael J, Fischer, Michelle A, Holst, John M, Hou, Peter C, Kellum, John A, Khan, Feras, Kurz, Michael C, Lotfipour, Shahram, LoVecchio, Frank, Peck-Palmer, Octavia M, Pike, Francis, Prunty, Heather, Sherwin, Robert L, Southerland, Lauren, Terndrup, Thomas, Weissfeld, Lisa A, Yabes, Jonathan, Angus, Derek C

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Fracture risk prediction in postmenopausal women with traditional and machine learning models in a nationwide, prospective cohort study in Switzerland with validation in the UK Bio... von Lehmann, Oliver, Mineeva, Olga, Veshchezerova, Dinara, Häuselmann, HansJörg, Guyer, Laura, Reichenbach, Stephan, Lehmann, Thomas, Demler, Olga, Everts-Graber, Judith

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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n−3 Fatty Acid Supplementation for the Treatment of Dry Eye Disease von Asbell, Penny A, Maguire, Maureen G, Pistilli, Maxwell, Ying, Gui-shuang, Szczotka-Flynn, Loretta B, Hardten, David R, Lin, Meng C, Shtein, Roni M

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A resource of targeted mutant mouse lines for 5,061 genes von Birling, Marie-Christine, Yoshiki, Atsushi, Adams, David J., Ayabe, Shinya, Beaudet, Arthur L., Bottomley, Joanna, Bradley, Allan, Brown, Steve D. M., Bürger, Antje, Bushell, Wendy, Chiani, Francesco, Chin, Hsian-Jean Genie, Christou, Skevoulla, Codner, Gemma F., DeMayo, Francesco J., Dickinson, Mary E., Doe, Brendan, Donahue, Leah Rae, Fray, Martin D., Gambadoro, Alessia, Gao, Xiang, Gertsenstein, Marina, Gomez-Segura, Alba, Goodwin, Leslie O., Heaney, Jason D., Hérault, Yann, de Angelis, Martin Hrabe, Jiang, Si-Tse, Justice, Monica J., Kasparek, Petr, King, Ruairidh E., Kühn, Ralf, Lee, Ho, Lee, Young Jae, Liu, Zhiwei, Lloyd, K. C. Kent, Lorenzo, Isabel, Mallon, Ann-Marie, McKerlie, Colin, Meehan, Terrence F., Fuentes, Violeta Munoz, Newman, Stuart, Nutter, Lauryl M. J., Oh, Goo Taeg, Pavlovic, Guillaume, Ramirez-Solis, Ramiro, Rosen, Barry, Ryder, Edward J., Santos, Luis A., Schick, Joel, Seavitt, John R., Sedlacek, Radislav, Seisenberger, Claudia, Seong, Je Kyung, Skarnes, William C., Sorg, Tania, Steel, Karen P., Tamura, Masaru, Tocchini-Valentini, Glauco P., Wang, Chi-Kuang Leo, Wardle-Jones, Hannah, Wattenhofer-Donzé, Marie, Wells, Sara, Wiles, Michael V., Willis, Brandon J., Wood, Joshua A., Wurst, Wolfgang, Xu, Ying, Teboul, Lydia, Murray, Stephen A.

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences von Baker, Kate, Devine, Rory T., Ng-Cordell, Elise, Raymond, F. Lucy, Hughes, Claire

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome von Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants von Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

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Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study von Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Wynn, Sarah, Ford, Tamsin, Baker, Kate, Chawner, Samuel J R A, Hall, Jeremy, van den Bree, Marianne B M, Owen, Michael J, Wolstencroft, Jeanne, Wicks, Francesca, Srinivasan, Ramya, Erwood, Marie, Lafont, Amy, Timur, Husne, Ye, Zheng, Walker, Susan, Printzlau, Frida, Juj, Manoj, Davies, Sarah, Denyer, Hayley, Watkins, Alice, Kerry, Eleanor, Coscini, Nadia, Fatih, Nasrtullah, Lucock, Anna, Denaxas, Spiros, Mandy, William, Walker, Neil, Wallwork, Sarah, Dewhurst, Eleanor, Cuthbert, Andrew, Challenger, Aimee, Andrews, Sophie, Holmans, Peter, Bowen, Samantha, Bradley, Karen, Birch, Philippa, Tong, Molly, Lewis, Nicola, Ray, Sinead, Sopp, Matthew, Moss, Hayley, Wynn, Sarah, Searle, Beverley, Robertson, Lisa, Berg, Jonathan, Lampe, Anne, Joss, Shelagh, Brennan, Paul, Kraus, Alison, Lahiri, Nayana, Weber, Astrid, Rawson, Myfanwy, Johnson, Diana, Vasudevan, Pradeep, Harrison, Rachel, Williams, Denise, Maher, Eamonn, Kini, Usha, Van Dijk, Fleur, Clowes, Virginia, Gurasashvilli, Jana, Mansour, Sahar, Holder-Espinasse, Muriel, Watford, Amy, Rankin, Julia, Baralle, Diana, Procter, Annie, Ford, Tamsin, Baker, Kate, Chawner, Samuel, Hall, Jeremy, Van den Bree, Marianne B M, Owen, Michael J, Skuse, David, Raymond, F Lucy, Skuse, David, Raymond, F Lucy

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The association between frailty and MRI features of cerebral small vessel disease von Kant, Ilse M. J., Mutsaerts, Henri J. M. M., van Montfort, Simone J. T., Jaarsma-Coes, Myriam G., Witkamp, Theodoor D., Winterer, Georg, Spies, Claudia D., Hendrikse, Jeroen, Slooter, Arjen J. C., de Bresser, Jeroen

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype von Sadleir, Lynette G, Mountier, Emily I, Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A, Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C, Murali, Hema R, Carvill, Gemma, Myers, Candace T, Mefford, Heather C, Scheffer, Ingrid E

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Genome-wide significant risk associations for mucinous ovarian carcinoma von Kelemen, Linda E, Lawrenson, Kate, Tyrer, Jonathan, Li, Qiyuan, Lee, Janet M, Seo, Ji-Heui, Phelan, Catherine M, Beesley, Jonathan, Chen, Xiaoqing, Spindler, Tassja J, Aben, Katja K H, Anton-Culver, Hoda, Antonenkova, Natalia

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