학술논문
'학술논문'
에서 검색결과 41건 | 목록
1~10
Academic Journal
Kancherla, Vijaya ; Botto, Lorenzo D; Rowe, Laura A; Shlobin, Nathan A; Caceres, Adrian; Arynchyna-Smith, Anastasia; Zimmerman, Kathrin; Blount, Jeffrey; Kibruyisfaw, Zewdie; Ghotme, Kemel A; Karmarkar, Santosh; Fieggen, Graham; Roozen, Sylvia; Oakley, Godfrey P, Jr; Rosseau, Gail; Berry, Robert J
In The Lancet Global Health July 2022 10(7):e1053-e1057
Academic Journal
Kancherla, Vijaya; Botto, Lorenzo D; Rowe, Laura A; Shlobin, Nathan A; Caceres, Adrian; Arynchyna-Smith, Anastasia; Zimmerman, Kathrin; Blount, Jeffrey; Kibruyisfaw, Zewdie; Ghotme, Kemel A; Karmarkar, Santosh; Fieggen, Graham; Roozen, Sylvia; Oakley, Godfrey P, Jr; Rosseau, Gail; Berry, Robert J
In The Lancet Global Health October 2022 10(10):e1391-e1392
Academic Journal
Yang, Quan-He ; Botto, Lorenzo D; Gallagher, Margaret; Friedman, JM; Sanders, Christopher L; Koontz, Deborah; Nikolova, Stanimila; Erickson, J David; Steinberg, Karen
In The American Journal of Clinical Nutrition July 2008 88(1):232-246
Academic Journal
Mattison, Kari A; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J; Menendez, Beatriz; Hoganson, George E; Botto, Lorenzo D; Filloux, Francis M; Aledo-Serrano, Ángel; Gil-Nagel, Antonio
Academic Journal
Justice, Cristina M; Cuellar, Araceli; Bala, Krithi; Sabourin, Jeremy A; Cunningham, Michael L; Crawford, Karen; Phipps, Julie M; Zhou, Yan; Cilliers, Deirdre; Byren, Jo C; Johnson, David; Wall, Steven A; Morton, Jenny EV; Noons, Peter; Sweeney, Elizabeth; Weber, Astrid; Rees, Katie EM; Wilson, Louise C; Simeonov, Emil; Kaneva, Radka; Yaneva, Nadezhda; Georgiev, Kiril; Bussarsky, Assen; Senders, Craig; Zwienenberg, Marike; Boggan, James; Roscioli, Tony; Tamburrini, Gianpiero; Barba, Marta; Conway, Kristin; Sheffield, Val C; Brody, Lawrence; Mills, James L; Kay, Denise; Sicko, Robert J; Langlois, Peter H; Tittle, Rachel K; Botto, Lorenzo D; Jenkins, Mary M; LaSalle, Janine M; Lattanzi, Wanda; Wilkie, Andrew OM; Wilson, Alexander F; Romitti, Paul A; Boyadjiev, Simeon A
HUMAN GENETICS. 139(8)
Academic Journal
Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher CY; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina GS; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Sacoto, Maria J Guillen; Scaglia, Fernando; Scheffer, Ingrid E; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H
Human Mutation. 40(7)
Academic Journal
Jenkins, Kathy J; Botto, Lorenzo D; Correa, Adolfo; Foster, Elyse; Kupiec, Jennifer K; Marino, Bradley S; Oster, Matthew E; Stout, Karen K; Honein, Margaret A
Journal of the American Heart Association. 8(8)
Academic Journal
Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Genomics, Task Force for Neonatal; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D
American Journal of Human Genetics. 103(5)
Academic Journal
In Progress in Pediatric Cardiology 2003 18(2):111-121
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Academic Journal
Sokoya, Tolulope; Parolek, Jan; Foged, Mads Møller; Danylchuk, Dmytro I; Bozan, Manuel; Sarkar, Bingshati; Hilderink, Angelika; Philippi, Michael; Botto, Lorenzo D; Terhal, Paulien A; Mäkitie, Outi; Piehler, Jacob; Kim, Yeongho; Burd, Christopher G; Klymchenko, Andrey S; Maeda, Kenji; Holthuis, Joost CM
eLife. September 14, 2022, Vol. 11
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[AR] Botto, Lorenzo D
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