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1Academic Journal
المؤلفون: Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas
المصدر: American Journal of Human Genetics. 109(9)
مصطلحات موضوعية: Genetic Testing, Pediatric, Genetics, Brain Disorders, Clinical Research, Prevention, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Rare Diseases, Good Health and Well Being, Child, Critical Illness, Humans, Infant, Newborn, Neonatal Screening, Precision Medicine, Retrospective Studies, UK Biobank, clinical decision support, clinical utility, diagnosis, diagnostic odyssey, gene therapy, genetic disease, newborn screening, orphan drug, rapid whole-genome sequencing, sensitivity, specificity, virtual management guidance, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3tv469xn
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2Academic Journal
المؤلفون: Owen, Mallory J, Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M, Dimmock, David P, Smith, Laurie D, Scharer, Gunter, Mardach, Rebecca, Willis, Mary J, Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R, McPhail, Timothy K, Mehtalia, Shyamal S, Chau, Kevin K, Kwon, Yong H, Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S, Reese, Martin G, De La Vega, Francisco M, Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A, Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A, Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G, Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lazare, Seka S, Shin, Yoon H, Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A, Reynders, John, Defay, Thomas, Hall, Kevin P, Veeraraghavan, Narayanan, Kingsmore, Stephen F
المصدر: Nature Communications. 13(1)
مصطلحات موضوعية: Human Genome, Pediatric, Genetics, Biotechnology, Pediatric Research Initiative, Good Health and Well Being, Child, DNA Copy Number Variations, Humans, Infant, Retrospective Studies, Whole Genome Sequencing
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Kingsmore, Stephen F., Wright, Meredith, Smith, Laurie D., Liang, Yupu, Mowrey, William R., Protopsaltis, Liana, Bainbridge, Matthew, Baker, Mei, Batalov, Sergey, Blincow, Eric, Cao, Bryant, Caylor, Sara, Chambers, Christina, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Hugh, Madhavrao, Lakshminarasimha, Lefebvre, Sebastien, Leipzig, Jeremy, Mardach, Rebecca, Moore, Barry, Oh, Danny, Olsen, Lauren, Ontiveros, Eric, Owen, Mallory J., Reimers, Rebecca, Scharer, Gunter, Schleit, Jennifer, Shelnutt, Seth, Mehtalia, Shyamal S., Oriol, Albert, Sanford, Erica, Schwartz, Steve, Wigby, Kristen, Willis, Mary J., Yandell, Mark, Kunard, Chris M., Defay, Thomas
المساهمون: National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences, Sanofi-Aventis US LLC, Sarepta Therapeutics Inc, Ionis Pharmaceuticals Inc, Horizon Pharmaceuticals Inc, Orchard, Alexion Pharmaceuticals Inc, Chiesi Farmaceutici SpA, Amgen Inc, Inozyme Pharma, Ultragenyx Pharmaceutical Inc
المصدر: The American Journal of Human Genetics ; volume 111, issue 12, page 2618-2642 ; ISSN 0002-9297
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4Academic Journal
المؤلفون: Kingsmore, Stephen F., Wright, Meredith, Olsen, Lauren, Schultz, Brandan, Protopsaltis, Liana, Averbuj, Dan, Blincow, Eric, Carroll, Jeanne, Caylor, Sara, Defay, Thomas, Ellsworth, Katarzyna, Feigenbaum, Annette, Gover, Mia, Guidugli, Lucia, Hansen, Christian, Van Der Kraan, Lucita, Kunard, Chris M., Kwon, Hugh, Madhavrao, Lakshminarasimha, Leipzig, Jeremy, Liang, Yupu, Mardach, Rebecca, Mowrey, William R., Nguyen, Hung, Niemi, Anna-Kaisa, Oh, Danny, Saad, Muhammed, Scharer, Gunter, Schleit, Jennifer, Mehtalia, Shyamal S., Sanford, Erica, Smith, Laurie D., Willis, Mary J., Wigby, Kristen, Reimers, Rebecca
المصدر: The American Journal of Human Genetics ; volume 111, issue 12, page 2643-2667 ; ISSN 0002-9297
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5Academic Journal
المؤلفون: Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R.
المساهمون: NIH
المصدر: The American Journal of Human Genetics ; volume 110, issue 6, page 1017 ; ISSN 0002-9297
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6Academic Journal
المؤلفون: Pant, Devesh C., Dorboz, Imen, Schlüter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas Pons, Carlos, Willis, Mary J., Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N., Musaev, Damir, Zaki, Maha S., Patterson, Marc C., Lanpher, Brendan C., Klee, Eric W., Pinto e Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M., Cohen, Julie S., Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamrez, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G., Pujades, Cristina, Fatemi, Ali, Boespflug‐Tanguy, Odile, Pujol Onofre, Aurora
المصدر: Articles publicats en revistes (Ciències Clíniques)
مصطلحات موضوعية: Malalties hereditàries, Neurociències, Genetic disorders, Neurosciences
وصف الملف: 16 p.; application/pdf
Relation: Reproducció del document publicat a: https://doi.org/10.1172/JCI123959; Journal of Clinical Investigation, 2019, vol. 129, num. 3, p. 1240-1256; https://doi.org/10.1172/JCI123959; http://hdl.handle.net/2445/171613; 709051
الاتاحة: http://hdl.handle.net/2445/171613
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7Academic Journal
المؤلفون: Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John
المساهمون: Victorian Government’s Operational Infrastructure Support Program, Aevi Genomic Medicine, Inc., Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, National Heart Lung and Blood Institute, Baylor Hopkins Center for Mendelian Genomics, US National Institute of Neurological Disorders and Stroke, Muscular Dystrophy Association, Uehara Memorial Foundation
المصدر: Brain ; volume 143, issue 1, page 112-130 ; ISSN 0006-8950 1460-2156
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8Academic Journal
المؤلفون: Di Donato, Nataliya, Guerrini, Renzo, Billington, Charles J, Barkovich, A James, Dinkel, Philine, Freri, Elena, Heide, Michael, Gershon, Elliot S, Gertler, Tracy S, Hopkin, Robert J, Jacob, Suma, Keedy, Sarah K, Kooshavar, Daniz, Lockhart, Paul J, Lohmann, Dietmar R, Mahmoud, Iman G, Parrini, Elena, Schrock, Evelin, Severi, Giulia, Timms, Andrew E, Webster, Richard I, Willis, Mary J H, Zaki, Maha S, Gleeson, Joseph G, Leventer, Richard J, Dobyns, William B
المساهمون: Bundesministerium für Bildung und Forschung, Tuscany Region Call for Health 2018, Fondazione Cassa di Risparmio di Firenze, Australian Genomics Health Alliance, National Health and Medical Research Council, US National Institutes of Health, National Institute of Neurological Disorders and Stroke, European Reference Network for rare and complex epilepsies
المصدر: Brain ; volume 145, issue 9, page 3274-3287 ; ISSN 0006-8950 1460-2156
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9Academic Journal
المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan
مصطلحات موضوعية: ddc:no
Relation: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie orcid:0000-0003-4900-9877 , Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana orcid:0000-0001-8939-1447 , Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih orcid:0000-0002-5777-7262 , Bilguvar, Kaya, Hamed, Sherifa orcid:0000-0002-1441-3530 , Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele orcid:0000-0003-4788-9719 , Zara, Federico orcid:0000-0001-9744-5222 , Salpietro, Vincenzo, Scala, Marcello orcid:0000-0003-2194-7239 , Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger orcid:0000-0001-7774-5025 , Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita orcid:0000-0002-9841-170X , Houlden, Henry, Bartesaghi, Luca orcid:0000-0001-8218-4648 , Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark orcid:0000-0003-1985-3671 and Senderek, Jan (2021). Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain, 144. S. 1422 - 1435. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156
الاتاحة: https://kups.ub.uni-koeln.de/60829/
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10Academic Journal
المؤلفون: Sheikh, Taimoor I, Mittal, Kirti, Willis, Mary J, Vincent, John B
المصدر: Orphanet Journal of Rare Diseases ; volume 8, issue 1 ; ISSN 1750-1172
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11Academic Journal
المؤلفون: Wigby, Kristen, Nicolas, Samuel, Carpinello, Matthew, Ricciardi, Michael T., Willis, Mary J.
المصدر: Journal of the American Academy of Child & Adolescent Psychiatry ; volume 58, issue 3, page 376-377 ; ISSN 0890-8567
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12Academic Journal
المؤلفون: Ruzzo, Kathleen, Sale, Taylor J., Willis, Mary J., Harding, Aaron J., Lutgendorf, Monica A.
المصدر: Obstetrics & Gynecology ; volume 129, issue 1, page 7S-7S ; ISSN 0029-7844
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13Academic Journal
المؤلفون: Bergen, Nicole J Van, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Akdemir, Zeynep H Coban, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M
المصدر: Brain: A Journal of Neurology; Jan2020, Vol. 143 Issue 1, p112-130, 19p
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14Academic Journal
المؤلفون: Miller, Kyle E., Willis, Mary J., McClatchey, Scott K.
المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus ; volume 19, issue 2, page 178-180 ; ISSN 1091-8531
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15
المؤلفون: Holst, John M., Willis, Mary J.
المصدر: Case Reports in Pediatrics.
مصطلحات موضوعية: Article Subject
وصف الملف: text/xhtml
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16Periodical
المؤلفون: Temkin, Richard, Vick, Jan, Miller Jr., J. Kenney, Kirkman, Tom, Miller, Wayne, Bergeron, Louis, Elliott, David J., Willis, Mary J., McMillan, Vernon J.
المصدر: MacHome; Feb2005, Vol. 13 Issue 2, p6-7, 2p, 2 Color Photographs
مصطلحات موضوعية: LETTERS to the editor, INK, COMPUTERS, MACINTOSH (Computer), COMPUTER users
الشركة/الكيان: AMERICA Online Inc.
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17Academic Journal
المؤلفون: Pant, Devesh C (AUTHOR), Dorboz, Imen (AUTHOR), Schlüter, Agatha (AUTHOR), Fourcade, Stéphane (AUTHOR), Launay, Nathalie (AUTHOR), Joya, Javier (AUTHOR), Aguilera-Albesa, Sergio (AUTHOR), Yoldi, Maria Eugenia (AUTHOR), Casasnovas, Carlos (AUTHOR), Willis, Mary J (AUTHOR), Ruiz, Montserrat (AUTHOR), Ville, Dorothée (AUTHOR), Lesca, Gaetan (AUTHOR), Siquier-Pernet, Karine (AUTHOR), Desguerre, Isabelle (AUTHOR), Yan, Huifang (AUTHOR), Wang, Jinming (AUTHOR), Burmeister, Margit (AUTHOR), Brady, Lauren (AUTHOR), Tarnopolsky, Mark (AUTHOR)
المصدر: Journal of Clinical Investigation. Mar2019, Vol. 129 Issue 3, p1240-1256. 17p. 1 Black and White Photograph, 2 Diagrams, 5 Charts, 3 Graphs.
مصطلحات موضوعية: *OLIGODENDROGLIA, *MEDICAL sciences, *AUDITORY evoked response, *FATTY acid desaturase, *LIFE sciences, *PHARMACOLOGY
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