학술논문
'학술논문'
에서 검색결과 25건 | 목록
1~10
Academic Journal
Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward
In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605
Academic Journal
Mole, Sara E; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F; de Los Reyes, Emily C; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M; Mason, Heather L; Mink, Jonathan W; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E; Scarpa, Maurizio; Scheffer, Ingrid E; Simonati, Alessandro; Specchio, Nicola; Von Löbbecke, Ina; Wang, Raymond Y; Williams, Ruth E
Orphanet Journal of Rare Diseases. 16(1)
Academic Journal
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Wang, Raymond Y; Movsesyan, Nina; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian
Molecular Genetics and Metabolism. 131(4)
Academic Journal
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Vite, Charles H; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Bodamer, Olaf; Wang, Raymond Y; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian
Molecular Genetics and Metabolism. 129(4)
Academic Journal
Hughes, Derralynn A; Nicholls, Kathleen; Shankar, Suma P; Sunder-Plassmann, Gere; Koeller, David; Nedd, Khan; Vockley, Gerard; Hamazaki, Takashi; Lachmann, Robin; Ohashi, Toya; Olivotto, Iacopo; Sakai, Norio; Deegan, Patrick; Dimmock, David; Eyskens, François; Germain, Dominique P; Goker-Alpan, Ozlem; Hachulla, Eric; Jovanovic, Ana; Lourenco, Charles M; Narita, Ichiei; Thomas, Mark; Wilcox, William R; Bichet, Daniel G; Schiffmann, Raphael; Ludington, Elizabeth; Viereck, Christopher; Kirk, John; Yu, Julie; Johnson, Franklin; Boudes, Pol; Benjamin, Elfrida R; Lockhart, David J; Barlow, Carrolee; Skuban, Nina; Castelli, Jeffrey P; Barth, Jay; Feldt-Rasmussen, Ulla
Journal of Medical Genetics. 54(4)
Academic Journal
Lourenço, Charles M; Pessoa, Andre; Mendes, Carmen C; Rivera‐Nieto, Carolina; Vergara, Diane; Troncoso, Mónica; Gardner, Emily; Mallorens, Francisca; Tavera, Lina; Lizcano, Luis A; Atanacio, Nora; Guelbert, Norberto; Specola, Norma; Mancilla, Nury; Souza, Carolina F M; Mole, Sara E
Academic Journal
Landouré, Guida; Zhu, Peng‐Peng; Lourenço, Charles M; Johnson, Janel O; Toro, Camilo; Bricceno, Katherine V; Rinaldi, Carlo; Meilleur, Katherine G; Sangaré, Modibo; Diallo, Oumarou; Pierson, Tyler M; Ishiura, Hiroyuki; Tsuji, Shoji; Hein, Nichole; Fink, John K; Stoll, Marion; Nicholson, Garth; Gonzalez, Michael A; Speziani, Fiorella; Dürr, Alexandra; Stevanin, Giovanni; Biesecker, Leslie G; Center, for the NIH Intramural Sequencing; Accardi, John; Landis, Dennis MD; Gahl, William A; Traynor, Bryan J; Marques, Wilson; Züchner, Stephan; Blackstone, Craig; Fischbeck, Kenneth H; Burnett, Barrington G
Human Mutation. 34(10)
Periodical
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 11 p1104-1115, 12p
Academic Journal
Manole, Andreea; Jaunmuktane, Zane; Hargreaves, Iain; Ludtmann, Marthe H R; Salpietro, Vincenzo; Bello, Oscar D; Pope, Simon; Pandraud, Amelie; Horga, Alejandro; Scalco, Renata S; Li, Abi; Ashokkumar, Balasubramaniem; Lourenço, Charles M; Heales, Simon; Horvath, Rita; Chinnery, Patrick F; Toro, Camilo; Singleton, Andrew B; Jacques, Thomas S; Abramov, Andrey Y; Muntoni, Francesco; Hanna, Michael G; Reilly, Mary M; Revesz, Tamas; Kullmann, Dimitri M; Jepson, James E C; Houlden, Henry
Brain. Nov 01, 2017 140(11):2820-2837
Academic Journal
Rasmussen, Malene B; Nielsen, Jakob V; Lourenço, Charles M; Melo, Joana B; Halgren, Christina; Geraldi, Camila V L; Marques, Wilson, Jr; Rodrigues, Guilherme R; Thomassen, Mads; Bak, Mads; Hansen, Claus; Ferreira, Susana I; Venâncio, Margarida; Henriksen, Karen F; Lind-Thomsen, Allan; Carreira, Isabel M; Jensen, Niels A; Tommerup, Niels
Journal of Medical Genetics. Sep 01, 2014 51(9):605-613
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[AR] Lourenço, Charles M
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