학술논문
'학술논문'
에서 검색결과 66건 | 목록
1~10
Academic Journal
Ahmad, Natalie; Fazeli, Walid; Schließke, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Dangerfield, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja
In Pediatric Neurology November 2023 148:164-171
Abman, Steven H.; Ali, Noorjahan; Allegaert, Karel; Anderson, Jamie E.; Ansah, Deidra A.; Arya, Bhawna; Askenazi, David; Aucott, Susan W.; Back, Stephen A.; Baer, Gerri R.; Baldwin, H. Scott; Ballas, Jerasimos; Batra, Maneesh; Bayart, Cheryl; Bellus, Gary A.; Benjamin, John T.; Berry, Gerard T.; Billimoria, Zeenia C.; Binenbaum, Gil; Blessing, Matthew S.; Boos, Markus D.; Bosse, Brad; Bouchard, Maryse L.; Brandling-Bennett, Heather A.; Brown, Colleen; Brown, Erin G.; Campbell, Katherine H.; Carlberg, Katie; Carter, Brian S.; Chabra, Shilpi; Chang, Irene J.; Cheng, Edith Y.; Chiang, Kai-wen; Christensen, Robert D.; Chun, Terrence; Clyman, Ronald I.; Cortezzo, Donna, Maria E.; Cotten, C.M.; Courtney, Sherry E.; Davis, Jonathan M.; de Alba Campomanes, Alejandra G.; Dean, Benjamin; Dees, Ellen; De, Mauro, Sara B.; Denne, Scott C.; Deschmann, Emöke; Di Blasi, Carolina Cecilia; Di, Vall, Sara A.; Doherty, Dan; Durand, David J.; Dyess, Nicolle Fernández; Eichenwald, Eric C.; Eitel, Kelsey B.; Engen, Rachel M.; Evans, Kelly N.; Farmer, Diana L.; Fay, Emily; Fechner, Patricia Y.; Fleishman, Rachel; Fleiss, Bobbi; Flynn, Joseph, Jr.; Flynn-O’Brien, Katherine T.; Kyle Fulton, G.; Gallagher, Renata C.; Gauda, Estelle B.; Christopher Golden, W.; Gontasz, Michelle M.; Estévez, Natasha González; Gospe, Sidney M., Jr.; Gressens, Pierre; Gupta, Deepti; Hingorani, Sangeeta; Hinson, Ashley P.; Hintz, Susan R.; Alan Hodson, W.; Hoppe, Kara K.; Huang, Alyssa; Huang, Benjamin; Huen, Kathy; Huff, Katie A.; Ionita, Cristian; Craig Jackson, J.; Jackson, Jordan E.; Jaksic, Tom; Javid, Patrick J.; Johnson, Julia; Josephson, Cassandra D.; Jungheim, Emily S.; Juul, Sandra E.; Kabbany, Mohammad Nasser; Karpen, Heidi; Keefe, Gregory; Keene, Jennifer C.; Keiser, Amaris M.; Keller, Roberta L.; Kelly, Thomas F.; Khorsand, Kate; Kim, Grace; Kinsella, John P.; Komorowski, Allison S.; Koves, Ildiko H.; Lagatta, Joanne M.; Lakshminrusimha, Satyan; Lam, Christina; Lantos, John D.; Law, Janessa B.; Lee, Su Yeon; Levy, Ofer; Lewis, David B.; Lin, Philana Ling; Lorch, Scott A.; Lucas, Tiffany L.; Maheshwari, Akhil; Maltepe, Emin; Mandell, Erica; Manimtim, Winston M.; Martin, Richard J.; Mayock, Dennis E.; Mc, Aleer, Irene; McQuillen, Patrick; Melvin, Ann J.; Merguerian, Paul A.; Merjaneh, Lina; Lawrence Merritt, J.; Mezger, Valerie; Michaels, Marian G.; Mietzsch, Ulrike; Miller, Steven P.; Moore, Thomas R.; Murray, Karen F.; Nandi-Munshi, Debika; Natarajan, Niranjana; Ness, Kathryn D.; Neu, Josef; Noori, Shahab; O’Shea, Thomas Michael, Jr.; Oatts, Julius T.; Paneth, Nigel; Parker, Thomas A.; Patel, Ravi Mangal; Patel, Simran; Penn, Anna A.; Pettker, Christian M.; Peyvandi, Shabnam; Pihoker, Catherine; Plosa, Erin; Poindexter, Brenda; Posencheg, Michael A.; Puia-Dumitrescu, Mihai; Cardona, Vilmaris Quiñones; Rice-Townsend, Samuel E.; Riddle, Art; Robbins, Elizabeth; Rollins, Mark D.; Rosen, Mark A.; Rowe, Courtney K.; Sahai, Inderneel; Saitta, Sulagna C.; Salehi, Parisa; Sanchez, Pablo J.; Sawyer, Taylor; Saxonhouse, Matthew A.; Schroeder, Katherine M.; Selewski, David T.; Niroshi Senaratne, T.; Seri, Istvan; Sharpe, Emily E.; Sheppard, Sarah E.; Shnorhavorian, Margarett; Sidbury, Robert; Simmons, La, Vone; Simmons, Rebecca A.; Singh, Rachana; Sola-Visner, Martha C.; Srinivasan, Lakshmi; Steflik, Heidi J.; Steinhorn, Robin H.; Stokes, Caleb; Stolp, Helen; Sucre, Jennifer; Sun, Angela; Taha, Dalal K.; Tenney, Jessica; Thomas, Janet A.; Tiller, George E.; Torres, Benjamin A.; Truog, William E.; Upadhyay, Kirtikumar; Valentine, Gregory C.; van den Anker, John N.; Vohr, Betty; Wallen, Linda D.; Wang, Peter (Zhan Tao); Warady, Bradley A.; Ward, Robert M.; Watchko, Jon F.; Wehbi, Elias; Weitkamp, Joern-Hendrik; Werny, David; White, Klane K.; Taylor Wild, K.; Wiley, Susan; Willig, Laurel; Woodward, George A.; Wright, Clyde J.; Yonekawa, Karyn; Yu, Elizabeth; Zackai, Elaine H.
In Avery's Diseases of the Newborn Edition: Eleventh Edition. 2024:vii-xix
Book
In Avery's Diseases of the Newborn Edition: Eleventh Edition. 2024:1306-1323
Book
In Avery's Diseases of the Newborn Edition: Tenth Edition. 2018:1450-1467
Academic Journal
Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske; Genomics England Res Consortium
Abman, Steven H.; Allegaert, Karel; Arya, Bhawna; Askenazi, David; Azhibekov, Timur; Back, Stephen A.; Baldwin, H. Scott; Ballard, Roberta A.; Bancalari, Eduardo; Bates, Carlton M.; Batra, Maneesh; Bayart, Cheryl B.; Bellus, Gary A.; Benedetti, Thomas J.; Benjamin, John T.; Bennett, James T.; Berry, Gerard T.; Binenbaum, Gil; Boos, Markus D.; Bouchard, Maryse; Brandling-Bennett, Heather A.; Broughton, Darcy E.; Brown, Zane; Campbell, Katherine H.; Carmichael, Suzan L.; Carter, Brian S.; Cederbaum, Stephen; Chabra, Shilpi; Chang, Justine; Cheng, Edith Y.; Chisholm, Karen M.; Christensen, Robert D.; Chun, Terrence; Claure, Nelson; Clyman, Ronald I.; Colaizy, Tarah T.; Cortezzo, DonnaMaria E.; Cotten, C. Michael; Cunningham, Michael L.; Campomanes, Alejandra G. de Alba; Dees, Ellen; DeMauro, Sara B.; Denne, Scott C.; Deschmann, Emöke; DiBlasi, Carolina Cecilia; DiBlasi, Robert M.; Dimmitt, Reed A.; DiVall, Sara A.; Djahangirian, Orchid; Doherty, Dan; Eichenwald, Eric C.; Engen, Rachel; Engmann, Cyril; Evans, Jacquelyn R.; Evans, Kelly N.; Farmer, Diana L.; Fechner, Patricia Y.; Ferrieri, Patricia; Finer, Neil N.; Fleishman, Rachel A.; Fleiss, Bobbi; Flynn, Joseph T.; Flynn-O’Brien, Katherine T.; Frey, Mark R.; Furman, Lydia; Gallagher, Renata C.; Gauda, Estelle B.; Gleason, Christine A.; Goldberg, Michael J.; Goldin, Adam B.; Gospe, Sidney M., Jr.; Gressens, Pierre; Gupta, Deepti; Guttentag, Susan H.; Haldeman-Englert, Chad R.; Hansen, Thomas N.; Hing, Anne V.; Hingorani, Sangeeta; Hintz, Susan R.; Hirose, Shinjiro; Hodson, W. Alan; Hoppe, Kara K.; Hostetter, Margaret K.; Huang, Benjamin; Huang, Sarah Bauer; Inder, Terrie E.; Inoita, Cristian; Jackson, J. Craig; Jain, Deepak; Jain, Lucky; Javid, Patrick J.; Josephson, Cassandra D.; Jungheim, Emily S.; Juul, Sandra E.; Katheria, Anup; Keller, Benjamin A.; Keller, Roberta L.; Kelly, Thomas F.; Khorsand, Kate; Kim, Grace; Kinsella, John P.; Koves, Ildiko H.; Lam, Christina; Lane, Erin R.; Lantos, John D.; Ledbetter, Daniel J.; Lee, Ben; Levy, Harvey L.; Levy, Ofer; Lewin, Mark B.; Lewis, David B.; Lin, P. Ling; Lin, Tiffany Fangtse; Lorch, Scott A.; Maheshwari, Akhil; Maltepe, Emin; Marsh, Ketzela J.; Martin, Richard J.; Mayock, Dennis E.; McAdams, Ryan Michael; McAleer, Irene; McElroy, Steven J.; McNelis, Kera M.; McQuillen, Patrick; Meadow, William L.; Merguerian, Paul A.; Merjaneh, Lina; Merritt, J. Lawrence, II; Mezger, Valerie; Michaels, Marian G.; Miller, Steven P.; Mohan, Sowmya S.; Mollen, Thomas J.; Moore, Thomas R.; Murray, Jeffrey C.; Murray, Karen F.; Nandi-Munshi, Debika; Natarajan, Niranjana; Neil, Jeffrey J.; Ness, Kathryn D.; Neu, Josef; Nip, Angel Siu-Ying; Noori, Shahab; O’Mahony, Lila; Palma, Jonathan P.; Paneth, Nigel; Parker, Thomas A.; Patel, Ravi Mangal; Penn, Anna A.; Pettker, Christian M.; Peyvandi, Shabnam; Pihoker, Cate; Plosa, Erin; Poindexter, Brenda B.; Posencheg, Michael A.; Reinking, Benjamin E.; Rice-Townsend, Samuel; Richards, Morgan K.; Richardson, C. Peter; Richardson, Kelsey; Riggle, Kevin M.; Robbins, Elizabeth; Rollins, Mark D.; Rosen, Mark A.; Rowe, Courtney K.; Sahai, Inderneel; Saitta, Sulagna C.; Salehi, Parisa; Sanchez, Pablo; Saxonhouse, Matthew A.; Schanler, Richard J.; Schleiss, Mark R.; Scholz, Thomas; Schwaderer, Andrew L.; Selewski, David; Sellers, Zachary M.; Seri, Istvan; Shnorhavorian, Margarett; Sibley, Eric; Sidbury, Robert; Simmons, Rebecca; Smith, Caitlin; Sola-Visner, Martha C.; Srinivasan, Lakshmi; Steinhorn, Robin H.; Stevenson, David K.; Stolp, Helen; Taplin, Craig; Tarczy-Hornoch, Peter; Taylor, James A.; Thomas, Janet A.; Thompson, Tracy; Tiller, George E.; Torres, Benjamin A.; Traudt, Christopher Michael; van den Anker, John N.; Vernon, Margaret M.; Vohr, Betty; Walker, Valencia P.; Wallen, Linda D.; Wallenstein, Matthew B.; Wang, Peter (Zhan Tao); Warady, Bradley A.; Ward, Robert M.; Watchko, Jon F.; Wehbi, Elias; Weitkamp, Joern-Hendrik; Werny, David; White, Klane K.; Willig, Laurel; Woodrum, David; Woodward, George A.; Wright, Clyde J.; Wright, Jeffrey A.; Yonekawa, Karyn; Zackai, Elaine H.
In Avery. Enfermedades del recién nacido Edition: Tenth Edition. 2019:vii-xx
Book
In Avery. Enfermedades del recién nacido Edition: Tenth Edition. 2019:1450-1467
Abman, Steven H.; Allegaert, Karel; Arya, Bhawna; Askenazi, David; Azhibekov, Timur; Back, Stephen A.; Baldwin, H. Scott; Ballard, Roberta A.; Bancalari, Eduardo; Bates, Carlton M.; Batra, Maneesh; Bayart, Cheryl B.; Bellus, Gary A.; Benedetti, Thomas J.; Benjamin, John T.; Bennett, James T.; Berry, Gerard T.; Binenbaum, Gil; Boos, Markus D.; Bouchard, Maryse; Brandling-Bennett, Heather A.; Broughton, Darcy E.; Brown, Zane; Campbell, Katherine H.; Carmichael, Suzan L.; Carter, Brian S.; Cederbaum, Stephen; Chabra, Shilpi; Chang, Justine; Cheng, Edith Y.; Chisholm, Karen M.; Christensen, Robert D.; Chun, Terrence; Claure, Nelson; Clyman, Ronald I.; Colaizy, Tarah T.; Cortezzo, DonnaMaria E.; Cotten, C. Michael; Cunningham, Michael L.; de Alba Campomanes, Alejandra G.; Dees, Ellen; DeMauro, Sara B.; Denne, Scott C.; Deschmann, Emöke; Cecilia, Carolina; DiBlasi, Robert M.; Dimmitt, Reed A.; DiVall, Sara A.; Djahangirian, Orchid; Doherty, Dan; Eichenwald, Eric C.; Engen, Rachel; Engmann, Cyril; Evans, Jacquelyn R.; Evans, Kelly N.; Farmer, Diana L.; Fechner, Patricia Y.; Ferrieri, Patricia; Finer, Neil N.; Fleishman, Rachel A.; Fleiss, Bobbi; Flynn, Joseph T.; Flynn-O'Brien, Katherine T.; Frey, Mark R.; Furman, Lydia; Gallagher, Renata C.; Gauda, Estelle B.; Gleason, Christine A.; Goldberg, Michael J.; Goldin, Adam B.; Gospe, Sidney M., Jr.; Gressens, Pierre; Gupta, Deepti; Guttentag, Susan H.; Haldeman-Englert, Chad R.; Hansen, Thomas N.; Hing, Anne V.; Hingorani, Sangeeta; Hintz, Susan R.; Hirose, Shinjiro; Hodson, W. Alan; Hoppe, Kara K.; Hostetter, Margaret K.; Huang, Benjamin; Huang, Sarah Bauer; Inder, Terrie E.; Inoita, Cristian; Jackson, J. Craig; Jain, Deepak; Jain, Lucky; Javid, Patrick J.; Josephson, Cassandra D.; Jungheim, Emily S.; Juul, Sandra E.; Katheria, Anup; Keller, Benjamin A.; Keller, Roberta L.; Kelly, Thomas F.; Khorsand, Kate; Kim, Grace; Kinsella, John P.; Koves, Ildiko H.; Lam, Christina; Lane, Erin R.; Lantos, John D.; Ledbetter, Daniel J.; Lee, Ben; Levy, Harvey L.; Levy, Ofer; Lewin, Mark B.; Lewis, David B.; Lin, P. Ling; Lin, Tiffany Fangtse; Lorch, Scott A.; Maheshwari, Akhil; Maltepe, Emin; Marsh, Ketzela J.; Martin, Richard J.; Mayock, Dennis E.; McAdams, Ryan Michael; McAleer, Irene; McElroy, Steven J.; McNelis, Kera M.; McQuillen, Patrick; Meadow, William L.; Merguerian, Paul A.; Merjaneh, Lina; Merritt, J. Lawrence, II; Mezger, Valerie; Michaels, Marian G.; Miller, Steven P.; Mohan, Sowmya S.; Mollen, Thomas J.; Moore, Thomas R.; Murray, Jeffrey C.; Murray, Karen F.; Nandi-Munshi, Debika; Natarajan, Niranjana; Neil, Jeffrey J.; Ness, Kathryn D.; Neu, Josef; Siu-Ying, Angel; Noori, Shahab; O'Mahony, Lila; Palma, Jonathan P.; Paneth, Nigel; Parker, Thomas A.; Patel, Ravi Mangal; Penn, Anna A.; Pettker, Christian M.; Peyvandi, Shabnam; Pihoker, Cate; Plosa, Erin; Poindexter, Brenda B.; Posencheg, Michael A.; Reinking, Benjamin E.; Rice-Townsend, Samuel; Richards, Morgan K.; Richardson, C. Peter; Richardson, Kelsey; Riggle, Kevin M.; Robbins, Elizabeth; Rollins, Mark D.; Rosen, Mark A.; Rowe, Courtney K.; Sahai, Inderneel; Saitta, Sulagna C.; Salehi, Parisa; Sanchez, Pablo; Saxonhouse, Matthew A.; Schanler, Richard J.; Schleiss, Mark R.; Scholz, Thomas; Schwaderer, Andrew L.; Selewski, David; Sellers, Zachary M.; Seri, Istvan; Shnorhavorian, Margarett; Sibley, Eric; Sidbury, Robert; Simmons, Rebecca; Smith, Caitlin; Sola-Visner, Martha C.; Srinivasan, Lakshmi; Steinhorn, Robin H.; Stevenson, David K.; Stolp, Helen; Taplin, Craig; Tarczy-Hornoch, Peter; Taylor, James A.; Thomas, Janet A.; Thompson, Tracy; Tiller, George E.; Torres, Benjamin A.; Traudt, Christopher Michael; van den Anker, John N.; Vernon, Margaret M.; Vohr, Betty; Walker, Valencia P.; Wallen, Linda D.; Wallenstein, Matthew B.; Wang, Peter (Zhan Tao); Warady, Bradley A.; Ward, Robert M.; Watchko, Jon F.; Wehbi, Elias; Weitkamp, Joern-Hendrik; Werny, David; White, Klane K.; Willig, Laurel; Woodrum, David; Woodward, George A.; Wright, Clyde J.; Wright, Jeffrey A.; Yonekawa, Karyn; Zackai, Elaine H.
In Avery's Diseases of the Newborn Edition: Tenth Edition. 2018:vii-xx
Book
In Avery's Diseases of the Newborn Edition: Ninth Edition. 2012:258-276
Academic Journal
Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; Gassen, Koen L. I. van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B. A. de; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Jr., Julian L.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(6):1028-1040
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