학술논문
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공정이용 지침
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위반 시 제재
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'학술논문'
에서 검색결과 168건 | 목록
1~20
Academic Journal
Ramaswami, Uma ; Font-Montgomery, Esperanza ; Goker-Alpan, Ozlem ; Ortiz, Damara ; Sanchez-Valle, Amarilis ; Whitley, Chester B. ; Wilcox, William R. ; Jiang, Hai ; Lawson, Lee Ann ; Vosk, Jennie ; Yang, Haichen ; Hopkin, Robert J.
In Molecular Genetics and Metabolism May 2025 145(1)
Academic Journal
Cooney, Erin ; Ammous, Zineb ; Bender, Tricia ; Clague, Gillian E. ; Clifford, Marilyn ; Crutcher, Angela ; Davis-Keppen, Laura ; Havens, Kirsten ; Lah, Melissa ; Sacharow, Stephanie ; Sanchez-Valle, Amarilis ; Vucko, Erika ; Wardley, Bridget ; Wessenberg, Leah ; Andersson, Hans C.
In Molecular Genetics and Metabolism Reports March 2025 42
Academic Journal
Jaime, Flores-Torres; Amarilis, Sanchez-Valle; Jose R, Duncan; Valerie, Panzarino; Jessica Marie, Rodriguez; Russell S, Kirby
Advances in Pediatrics. 70:131-144
Academic Journal
Jerry Vockley; Barbara Burton; Amarilis Sanchez Valle; Michal Inbar-Feigenberg; Anjali Aggarwal; Joel Hetzer; Bridget Reineking; Andrew Grimm
Genetics in Medicine Open, Vol 3, Iss , Pp 102893- (2025)
Academic Journal
Jerry Vockley; Barbara K. Burton; Gerard Berry; Nicola Longo; John Phillips; Amarilis Sanchez‐Valle; Kimberly A. Chapman; Pranoot Tanpaiboon; Stephanie Grunewald; Elaine Murphy; Xiaoxiao Lu; Syeda Rahman; Kathryn Ray; Bridget Reineking; Laura Pisani; Antonio Nino Ramirez
Journal of Inherited Metabolic Disease. 46:943-955
Academic Journal
An N. Dang Do; Irene J. Chang; Xutian Jiang; Lynne A. Wolfe; Bobby G. Ng; Christina Lam; Rhonda E. Schnur; Katrina Allis; Hana Hansikova; Nina Ondruskova; Shawn D. O'Connor; Amarilis Sanchez‐Valle; Arve Vollo; Raymond Y. Wang; Zoe Wolfenson; John Perreault; Daniel S. Ory; Hudson H. Freeze; J. Lawrence Merritt; Forbes D. Porter
Journal of Inherited Metabolic Disease, vol 46, iss 2
Academic Journal
Grant, Mitzie L. ; Jurecki, Elaina R. ; McCandless, Shawn E. ; Stahl, Stephen M. ; Bilder, Deborah A. ; Sanchez-Valle, Amarilis ; Dimmock, David
In The Journal of Pediatrics September 2023 260
Academic Journal
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101082- (2024)
Academic Journal
Genetics in Medicine Open. 2
Academic Journal
Genetics in Medicine Open. 2
Academic Journal
Inbar-Feigenberg, Michal; Burton, Barbara; Sanchez-Valle, Amarilis; Vockley, Jerry; Aggarwal, Anjali; Hetzer, Joel; Reineking, Bridget; Grimm, Andrew
Genetics in Medicine Open. 2
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
J Clin Invest
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C,Sanchez -Valle , A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, ' Spliceosome malfunction causes neurodevelopmental disorders with overlapping features ', Journal of Clinical Investigation, vol. 134, no. 1, e171235 . https://doi.org/10.1172/JCI171235
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C,
Academic Journal
Zarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro
Genetics in Medicine. 23:1050-1057
Academic Journal
Burton, Barbara K. ; Hermida, Álvaro ; Bélanger-Quintana, Amaya ; Bell, Heather ; Bjoraker, Kendra J. ; Christ, Shawn E. ; Grant, Mitzie L. ; Harding, Cary O. ; Huijbregts, Stephan C.J. ; Longo, Nicola ; McNutt, Markey C., II ; Nguyen-Driver, Mina D. ; Santos Pessoa, André L. ; Rocha, Júlio César ; Sacharow, Stephanie ; Sanchez-Valle, Amarilis ; Sivri, H. Serap ; Vockley, Jerry ; Walterfang, Mark ; Whittle, Sarah ; Muntau, Ania C.
In Molecular Genetics and Metabolism September-October 2022 137(1-2):114-126
Academic Journal
Uma Ramaswami; Esperanza E. Font-Montgomery; Ozlem Goker-Alpan; Damara Ortiz; Amarilis Sanchez-Valle; Chester B. Whitley; William R. Wilcox; Hai Jiang; Lee Ann Lawson; Jennie Vosk; Haichen Yang; Robert J. Hopkin
Molecular Genetics and Metabolism. 144:108910
Academic Journal
Waisbren, Susan; Burton, Barbara K.; Feigenbaum, Annette; Konczal, Laura L.; Lilienstein, Joshua; McCandless, Shawn E.; Rowell, Richard; Sanchez-Valle, Amarilis; Whitehall, Kaleigh B.; Longo, Nicola
Mol Genet Metab
Academic Journal
Jerry Vockley; Barbara Burton; Gerard Berry; Nicola Longo; John Phillips; Amarilis Sanchez‐Valle; Kimberly Chapman; Pranoot Tanpaiboon; Stephanie Grunewald; Elaine Murphy; Xiaoxiao Lu; Jason Cataldo
J Inherit Metab Dis
Academic Journal
Schneeberger, Pauline E.; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodríguez Alonso, Aroa; Palomares-Bralo, María; Santos-Simarro, Fernando; Meuwissen, Marije; Beysen, Diane; Kooy, Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernier, Raphael; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A; Golden-Grant, Katie; Goldman, Alica M; Goldstein, David B; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M; Holm, Ingrid A; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M; Karaviti, Lefkothea; Kelley, Emily G; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S; Kohler, Jennefer N; Krakow, Deborah; Krasnewich, Donna M; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B; Lalani, Seema R; Lam, Byron; Lam, Christina; Lanpher, Brendan C; Lanza, Ian R; Christopher Lau, C; LeBlanc, Kimberly; Lee, Brendan H; Lee, Hane; Levitt, Roy; Lewis, Richard A; Lincoln, Sharyn A; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K; Loscalzo, Joseph; Maas, Richard L; Macnamara, Ellen F; MacRae, Calum A; Maduro, Valerie V; Majcherska, Marta M; Malicdan, May Christine V; Mamounas, Laura A; Manolio, Teri A; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C; Marom, Ronit; Marth, Gabor; Martin, Beth A; Martin, Martin G; Martínez-Agosto, Julian A; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E; McCray, Alexa T; McGee, Elisabeth; Mefford, Heather; Merritt, J Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava-Kozicz, Eva; Moretti, Paolo M; Morimoto, Marie; Mulvihill, John J; Murdock, David R; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F; Newman, John H; Nicholas, Sarah K; Nickerson, Deborah; Novacic, Donna; Oglesbee, Devin; Orengo, James P; Pace, Laura; Pak, Stephen; Carl Pallais, J; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Phillips, John A; Posey, Jennifer E; Potocki, Lorraine; Pusey, Barbara N; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N; Renteria, Genecee; Reuter, Chloe M; Rives, Lynette; Robertson, Amy K; Rodan, Lance H; Rosenfeld, Jill A; Rosenwasser, Natalie; Rowley, Robb K; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B; Samson, Susan L; Saporta, Mario; Scott, C Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H; Silverman, Edwin K; Sinsheimer, Janet S; Sisco, Kathy; Smith, Edward C; Smith, Kevin S; Solem, Emily; Solnica-Krezel, Lilianna; Spillmann, Rebecca C; Stoler, Joan M; Stong, Nicholas; Sullivan, Jennifer A; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A; Sybert, Virginia; Tabor, Holly K; Tamburro, Cecelia P; Tan, Queenie K -G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J; Toro, Camilo; Tran, Alyssa A; Tucker, Brianna M; Urv, Tiina K; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P; Wahl, Colleen E; Wallace, Stephanie; Walley, Nicole M; Walsh, Chris A; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F; Ward, Patricia A; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T; Whitlock, Jordan; Wolfe, Lynne A; Woods, Jeremy D; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B; Zhao, Chunli; Zuchner, Stephan; Gelb, Bruce D; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin; Kortum, Fanny; Santer, Rene; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Karimiani, Ehsan; Gelb, Bruce D.
Brain
Academic Journal
Nicola Longo; David Dimmock; Harvey Levy; Krista Viau; Heather Bausell; Deborah A. Bilder; Barbara Burton; Christel Gross; Hope Northrup; Fran Rohr; Stephanie Sacharow; Amarilis Sanchez-Valle; Mary Stuy; Janet Thomas; Jerry Vockley; Roberto Zori; Cary O. Harding
Genet Med
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