Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency von Lautrup, Charlotte K., Teik, Keng W., Unzaki, Ai, Mizumoto, Shuji, Syx, Delfien, Sin, Heng H., Nielsen, Irene K., Markholt, Sara, Yamada, Shuhei, Malfait, Fransiska, Matsumoto, Naomichi, Miyake, Noriko, Kosho, Tomoki

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First reported adult patient with TARP syndrome: A case report von Højland, Allan T., Lolas, Ihab, Okkels, Henrik, Lautrup, Charlotte K., Diness, Birgitte R., Petersen, Michael B., Nielsen, Irene K.

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Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency von Lautrup, Charlotte K, Teik, Keng W, Unzaki, Ai, Mizumoto, Shuji, Syx, Delfien, Sin, Heng H, Nielsen, Irene K, Markholt, Sara, Yamada, Shuhei, Malfait, Fransiska, Matsumoto, Naomichi, Miyake, Noriko, Kosho, Tomoki

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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation von Niswander, Lee, Omran, Heymut, Burdine, Rebecca D, Becker-Heck, Anita, Zohn, Irene E, Okabe, Noriko, Pollock, Andrew, Lenhart, Kari Baker, Sullivan-Brown, Jessica, McSheene, Jason, Loges, Niki T, Olbrich, Heike, Haeffner, Karsten, Fliegauf, Manfred, Horvath, Judith, Reinhardt, Richard, Nielsen, Kim G, Marthin, June K, Baktai, Gyorgy, Anderson, Kathryn V, Geisler, Robert

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Selexipag for the Treatment of Pulmonary Arterial Hypertension von Sitbon, Olivier, Channick, Richard, Chin, Kelly M, Frey, Aline, Gaine, Sean, Galiè, Nazzareno, Ghofrani, Hossein-Ardeschir, Hoeper, Marius M, Lang, Irene M, Preiss, Ralph, Rubin, Lewis J, Di Scala, Lilla, Tapson, Victor, Adzerikho, Igor, Liu, Jinming, Moiseeva, Olga, Zeng, Xiaofeng, Simonneau, Gérald, McLaughlin, Vallerie V

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Pan-cancer analysis of whole genomes von Campbell, Peter J, Getz, Gad, Korbel, Jan O, Stuart, Joshua M, Jennings, Jennifer L, Stein, Lincoln D, Perry, Marc D

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2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension von Humbert, Marc, Kovacs, Gabor, Hoeper, Marius M, Badagliacca, Roberto, Berger, Rolf M F, Brida, Margarita, Carlsen, Jørn, Coats, Andrew J S, Escribano-Subias, Pilar, Ferrari, Pisana, Ferreira, Diogenes S, Ghofrani, Hossein Ardeschir, Giannakoulas, George, Kiely, David G, Mayer, Eckhard, Meszaros, Gergely, Nagavci, Blin, Olsson, Karen M, Pepke-Zaba, Joanna, Quint, Jennifer K, Rådegran, Göran, Simonneau, Gerald, Sitbon, Olivier, Tonia, Thomy, Toshner, Mark, Vachiery, Jean Luc, Vonk Noordegraaf, Anton, Delcroix, Marion, Rosenkranz, Stephan

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Increased transmissibility of SARS-CoV-2 lineage B.1.1.7 by age and viral load von Lyngse, Frederik Plesner, Mølbak, Kåre, Skov, Robert Leo, Christiansen, Lasse Engbo, Mortensen, Laust Hvas, Albertsen, Mads, Møller, Camilla Holten, Krause, Tyra Grove, Rasmussen, Morten, Michaelsen, Thomas Yssing, Voldstedlund, Marianne, Fonager, Jannik, Steenhard, Nina, Kirkeby, Carsten Thure

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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants von Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H F, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, Chenevix-Trench, Georgia

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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants von Li, Hongyan, Engel, Christoph, de la Hoya, Miguel, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita, Goldgar, David E.

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A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) variants of concern von Jessen, Randi, Nielsen, Line, Larsen, Nicolai Balle, Cohen, Arieh Sierra, Gunalan, Vithiagaran, Marving, Ellinor, Alfaro-Núñez, Alonzo, Polacek, Charlotta, Fomsgaard, Anders, Spiess, Katja

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Synthesis and biological evaluation of dihydropyrano-[2,3-c]pyrazoles as a new class of PPARγ partial agonists von Qvortrup, Katrine, Jensen, Jakob F, Sørensen, Mikael S, Kouskoumvekaki, Irene, Petersen, Rasmus K, Taboureau, Olivier, Kristiansen, Karsten, Nielsen, Thomas E

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk von Hall, Per, Gonzalez-Neira, Anna, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Bojesen, Stig E, Wang, Qin, Dicks, Ed, Lee, Andrew, Turnbull, Clare, Rahman, Nazneen, Gibson, Lorna, Muranen, Taru A, Adank, Muriel, Dahmen, Norbert, Beckman, Lars, Meindl, Alfons, Lichtner, Peter, Southey, Melissa C, Makalic, Enes, Tessier, Daniel C, Canisius, Sander, Brown, Judith, Humphreys, Keith, Li, Jingmei, Couch, Fergus J, Lambrechts, Diether, Rudolph, Anja, Flesch-Janys, Dieter, Johnson, Nichola, Broeks, Annegien, Schneeweiss, Andreas, Burwinkel, Barbara, Zamora, M Pilar, Perez, Jose Ignacio Arias, Alonso, M Rosario, Brock, Ian W, Cross, Simon S, Sawyer, Elinor J, Kerin, Michael J, Henderson, Brian E, Le Marchand, Loic, Andrulis, Irene L, Knight, Julia A, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J, Hollestelle, Antoinette, van den Ouweland, Ans M W, Jager, Agnes, Dite, Gillian S, Apicella, Carmel, Tsimiklis, Helen, Baglietto, Laura, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony, Ashworth, Alan, Jones, Michael, Figueroa, Jonine, Lissowska, Jolanta, Goldberg, Mark S, Labrèche, France, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Brauch, Hiltrud, Hamann, Ute, Brüning, Thomas, Peterlongo, Paolo, Manoukian, Siranoush, van Asperen, Christi J, Jaworska, Katarzyna, Durda, Katarzyna, Mannermaa, Arto, Bogdanova, Natalia V, Antonenkova, Natalia N, Kristensen, Vessela N, Anton-Culver, Hoda, Toland, Amanda E, Edge, Stephen, Fostira, Florentia, Yoo, Keun-Young, Iwata, Hiroji, Wu, Anna H, Stram, Daniel O, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Yip, Cheng Har, Phuah, Sze Yee, Miao, Hui, Siriwanarangsan, Pornthep, Shen, Chen-Yang, Blot, William J, Cai, Qiuyin, Deming-Halverson, Sandra, Shrubsole, Martha, Benitez, Javier

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Long working hours and risk of coronary heart disease and stroke: a systematic review and meta-analysis of published and unpublished data for 603 838 individuals von Kivimäki, Mika, Prof, Jokela, Markus, PhD, Nyberg, Solja T, MSc, Singh-Manoux, Archana, PhD, Fransson, Eleonor I, PhD, Alfredsson, Lars, Prof, Bjorner, Jakob B, Prof, Borritz, Marianne, MD, Burr, Hermann, PhD, Casini, Annalisa, PhD, Clays, Els, PhD, De Bacquer, Dirk, Prof, Dragano, Nico, Prof, Erbel, Raimund, Prof, Geuskens, Goedele A, PhD, Hamer, Mark, PhD, Hooftman, Wendela E, PhD, Houtman, Irene L, PhD, Jöckel, Karl-Heinz, Prof, Kittel, France, Prof, Knutsson, Anders, Prof, Koskenvuo, Markku, Prof, Lunau, Thorsten, MSc, Madsen, Ida E H, PhD, Nielsen, Martin L, MD, Nordin, Maria, PhD, Oksanen, Tuula, MD, Pejtersen, Jan H, PhD, Pentti, Jaana, MSc, Rugulies, Reiner, Prof, Salo, Paula, Prof, Shipley, Martin J, MSc, Siegrist, Johannes, Prof, Steptoe, Andrew, Prof, Suominen, Sakari B, Prof, Theorell, Töres, Prof, Vahtera, Jussi, Prof, Westerholm, Peter J M, Prof, Westerlund, Hugo, Prof, O'Reilly, Dermot, PhD, Kumari, Meena, Prof, Batty, G David, DSc, Ferrie, Jane E, PhD, Virtanen, Marianna, Prof

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2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European So... von Galiè, Nazzareno, Humbert, Marc, Vachiery, Jean-Luc, Gibbs, Simon, Lang, Irene, Torbicki, Adam, Simonneau, Gérald, Peacock, Andrew, Vonk Noordegraaf, Anton, Beghetti, Maurice, Ghofrani, Ardeschir, Gomez Sanchez, Miguel Angel, Hansmann, Georg, Klepetko, Walter, Lancellotti, Patrizio, Matucci, Marco, McDonagh, Theresa, Pierard, Luc A, Trindade, Pedro T, Zompatori, Maurizio, Hoeper, Marius

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Real-time PCR for quantification of eleven individual Fusarium species in cereals von Nicolaisen, Mogens, Supronienė, Skaidrė, Nielsen, Linda Kærgaard, Lazzaro, Irene, Spliid, Niels Henrik, Justesen, Annemarie Fejer

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A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns von Jiao, Wei, Atwal, Gurnit, Polak, Paz, Karlic, Rosa, Cuppen, Edwin, Danyi, Alexandra, de Ridder, Jeroen, van Herpen, Carla, Lolkema, Martijn P., Steeghs, Neeltje, Getz, Gad, Morris, Quaid D., Stein, Lincoln D.

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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants von Li, Hongyan, Engel, Christoph, Hoya, Miguel de la, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita, Goldgar, David E.

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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study von Perkerson, Ralph B, Jenkins, Gregory D, Serie, Daniel J, Ghidoni, Roberta, Benussi, Luisa, López de Munain, Adolfo, Zulaica, Miren, Moreno, Fermin, Le Ber, Isabelle, Pasquier, Florence, Hannequin, Didier, Sánchez-Valle, Raquel, Antonell, Anna, Lladó, Albert, Parsons, Tammee M, Finch, NiCole A, Finger, Elizabeth C, Lippa, Carol F, Huey, Edward D, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Slawek, Jaroslaw, Sitek, Emilia, Johannsen, Peter, Nielsen, Jørgen E, Ren, Yingxue, DeJesus-Hernandez, Mariely, Murray, Melissa E, Bieniek, Kevin F, Evers, Bret M, Richardson, Anna, Scarpini, Elio, Hardy, John, Frangipane, Francesca, Maletta, Raffaele, Anfossi, Maria, Gallo, Maura, Suh, EunRan, Lopez, Oscar L, Wong, Tsz H, van Rooij, Jeroen G J, Seelaar, Harro, Caselli, Richard J, Reiman, Eric M, Noel Sabbagh, Marwan, Kjolby, Mads, Nykjaer, Anders, Karydas, Anna M, Boxer, Adam L, Spina, Salvatore, Oblak, Adrian, Mesulam, M-Marsel, Weintraub, Sandra, Geula, Changiz, Hodges, John R, Piguet, Olivier, Irwin, David J, Trojanowski, John Q, Lee, Edward B, Josephs, Keith A, Knopman, David S, Piaceri, Irene, Bagnoli, Silvia, Sorbi, Sandro, Gearing, Marla, Beach, Thomas G, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Honig, Lawrence S, Bruni, Amalia C, Snowden, Julie, Pickering-Brown, Stuart, Diehl-Schmid, Janine, Winkelmann, Juliane, Galimberti, Daniela, Graff, Caroline, Öijerstedt, Linn, Troakes, Claire, Al-Sarraj, Safa, Cruchaga, Carlos, Cairns, Nigel J, Rohrer, Jonathan D, Halliday, Glenda M, Kwok, John B, van Swieten, John C, White, Charles L, Ghetti, Bernardino, Murell, Jill R, Borroni, Barbara, Tagliavini, Fabrizio, Bigio, Eileen H, Grossman, Murray, Van Deerlin, Vivianna M, Miller, Bruce L, Dickson, Dennis W, Biernacka, Joanna M, Rademakers, Rosa

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Noninvasive Ventilation of Patients with Acute Respiratory Distress Syndrome. Insights from the LUNG SAFE Study von Bellani, Giacomo, Laffey, John G, Pham, Tài, Madotto, Fabiana, Fan, Eddy, Brochard, Laurent, Esteban, Andres, Gattinoni, Luciano, Bumbasirevic, Vesna, Piquilloud, Lise, van Haren, Frank, Larsson, Anders, McAuley, Daniel F, Bauer, Philippe R, Arabi, Yaseen M, Ranieri, Marco, Antonelli, Massimo, Rubenfeld, Gordon D, Thompson, B Taylor, Wrigge, Hermann, Slutsky, Arthur S, Pesenti, Antonio

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