학술논문
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'학술논문'
에서 검색결과 122건 | 목록
1~20
Academic Journal
Mackley, Michael P. ; Richer, Julie ; Guerin, Andrea ; Caluseriu, Oana ; Armstrong, Linlea ; Blood, Katherine A. ; Bernier, Francois ; Boswell-Patterson, Christie ; Chard, Marisa ; Costain, Gregory ; Dyment, David ; Eaton, Alison ; Faghfoury, Hanna ; Frosk, Patrick ; Gillespie, Meredith K. ; Goh, Elaine S. ; Hayeems, Robin Z. ; Hashemi, Bita ; Innes, A. Micheil ; Jackson, Molly ; Laberge, Anne-Marie ; Limoges, Jacqueline ; Marshall, Christian ; McMillan, Hugh ; Nelson, Tanya N. ; Osmond, Matthew ; Parboosingh, Jillian ; Penney, Lynette ; Prince, Bradley ; Sawyer, Sarah L. ; Siu, Victoria Mok ; Thomas, Mary Ann ; Turner, Lesley ; Villeneuve-Cloutier, Noémie ; Hartley, Taila ; Boycott, Kym M.
In Genetics in Medicine August 2025 27(8)
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Hartley, Taila ; Acker, Meryl ; Fooks, Katharine ; Gillespie, Meredith K. ; Price, E. Magda ; Graham, Ian D. ; White-Brown, Alexandre ; MacKay, Layla ; Macdonald, Stella K. ; Brady, Lauren ; Hui, Angela Y. ; Andrews, Joseph D. ; Chowdhury, Ashfia ; Wall, Erika ; Soubry, Élisabeth ; Ediae, Grace U. ; Rojas, Samantha ; Assamad, Daniel ; Tarnopolsky, Mark ; Sawyer, Sarah L. ; Chisholm, Caitlin ; Lemire, Gabrielle ; Amburgey, Kimberly ; Lazier, Joanna ; Mendoza-Londono, Roberto ; Dowling, James J. ; Balci, Tugce B. ; Armour, Christine M. ; Bhola, Priya T. ; Costain, Gregory ; Dupuis, Lucie ; Carter, Melissa ; Badalato, Lauren ; Richer, Julie ; Boswell-Patterson, Christie ; Kannu, Peter ; Cordeiro, Dawn ; Warman-Chardon, Jodi ; Graham, Gail ; Siu, Victoria Mok ; Cytrynbaum, Cheryl ; Rusnak, Alison ; Aul, Ritu B. ; Yoon, Grace ; Gonorazky, Hernan ; McNiven, Vanda ; Mercimek-Andrews, Saadet ; Guerin, Andrea ; Deshwar, Ashish R. ; Marwaha, Ashish ; Weksberg, Rosanna ; Karp, Natalya ; Campbell, Maggie ; Al-Qattan, Sarah ; Shuen, Andrew Y. ; Inbar-Feigenberg, Michal ; Cohn, Ronald ; Szuto, Anna ; Inglese, Cara ; Poirier, Myriam ; Chad, Lauren ; Potter, Beth ; Boycott, Kym M.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Osmond, Matthew ; Hartley, Taila ; Dyment, David A. ; Kernohan, Kristin D. ; Buske, Orion J. ; Innes, A. Micheil ; Boycott, Kym M.
In Genetics in Medicine January 2022 24(1):100-108
Academic Journal
In Genetics in Medicine June 2020 22(6):1036-1039
Academic Journal
Lebo, Matthew S. ; Zakoor, Kathleen-Rose ; Chun, Kathy ; Speevak, Marsha D. ; Waye, John S. ; McCready, Elizabeth ; Parboosingh, Jillian S. ; Lamont, Ryan E. ; Feilotter, Harriet ; Bosdet, Ian ; Tucker, Tracy ; Young, Sean ; Karsan, Aly ; Charames, George S. ; Agatep, Ronald ; Spriggs, Elizabeth L. ; Chisholm, Caitlin ; Vasli, Nasim ; Daoud, Hussein ; Jarinova, Olga ; Tomaszewski, Robert ; Hume, Stacey ; Taylor, Sherryl ; Akbari, Mohammad R. ; Lerner-Ellis, Jordan ; Agatep, Ron; Ainsworth, Peter; Aronson, Melyssa; Basran, Raveen; Blavier, Andre; Blumenthal, Andrea; Boycott, Kym; Brudno, Michael; Buckley, Kathleen; Campbell, Jodi; M. Campeau, Philippe; Care, Melanie; Carson, Nancy; Carter, Ronald; Charames, George; Chitayat, David; Chong, George; Chouinard, Edmond; Craddock, Kenneth J.; Docking, Rod; Eisen, Andrea; Faghfoury, Hanna; Farrell, Sandra; Fernandez, Bridget; Fiume, Marc; Forster-Gibson, Cynthia; Friedman, Jan; Foulkes, William; Goodhand, Peter; Gu, Jessica; Hegele, Robert; Holter, Spring; Horsburgh, Sheri; Hughes, Lauren; Jewett, Franny; Junker, Anne; Khalouei, Sam; Knoll, Joan; Kolomeitz, Elena; Knoppers, Bartha; Lamont, Ryan; Lebo, Matthew; Maire, Georges; Marshall, Christian; Mitchell, Grant; J Moorhouse, Michael; Morel, Chantal; Nelson, Tanya; Noor, Abdul; O'Connor, Brian; O'Rielly, Darren; Ouellette, Francis; Parboosingh, Jillian; Racher, Hilary; Ray, Peter; Rehm, Heidi; Riddell, Christie; Riviere, Jean-Baptiste; Rosenblatt, David S.; Rouleau, Guy; Ruchon, Andrea; Sabatini, Peter; Sadikovic, Bekim; Semotiuk, Kara; Scherer, Stephen W.; Shuman, Cheryl; Silver, Josh; Siminovitch, Katherine; Solomon-Izsak, Lesley; Soucy, Jean-Francois; Speevak, Marsha; Stavropoulos, James; Stein, Lincoln; Tannenbaum, Rhonda; Terespolsky, Deborah; Wintle, Richard F.; Wong, Beatrix; Wong, Nora; Wang, Marina; Watkins, Nicholas; White, Shana; Woods, Michael O.; Wyatt, Philip
In Genetics in Medicine March 2018 20(3):294-302
Academic Journal
Wilton, Stephen B.; Anderson, Todd J.; Parboosingh, Jillian; Bridge, Peter J.; Exner, Derek V.; Forrest, Dana; Duff, Henry J.
In Heart Rhythm 2008 5(5):694-700
Academic Journal
Lee, Chae Syng ; Fu, He ; Baratang, Nissan ; Rousseau, Justine ; Kumra, Heena ; Sutton, V. Reid ; Niceta, Marcello ; Ciolfi, Andrea ; Yamamoto, Guilherme ; Bertola, Débora ; Marcelis, Carlo L. ; Lugtenberg, Dorien ; Bartuli, Andrea ; Kim, Choel ; Hoover-Fong, Julie ; Sobreira, Nara ; Pauli, Richard ; Bacino, Carlos ; Krakow, Deborah ; Parboosingh, Jillian ; Yap, Patrick ; Kariminejad, Ariana ; McDonald, Marie T. ; Aracena, Mariana I. ; Lausch, Ekkehart ; Unger, Sheila ; Superti-Furga, Andrea ; Lu, James T. ; Cohn, Dan H. ; Tartaglia, Marco ; Lee, Brendan H. ; Reinhardt, Dieter P. ; Campeau, Philippe M.
In The American Journal of Human Genetics 2 November 2017 101(5):815-823
Academic Journal
Niri, Farshad; Nicholls, Jessie; Baptista Wyatt, Kelly; Walker, Christine; Price, Tiffany; Kelln, Rhonda; Hume, Stacey; Parboosingh, Jillian; Lilley, Margaret; Kolski, Hanna; Ridsdale, Ross; Muranyi, Andrew; Mah, Jean K.; Bulman, Dennis E.
International Journal of Neonatal Screening (IJNS); Sep2023, Vol. 9 Issue 3, p42, 11p
Academic Journal
Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Sababi Azamian, Mahshid; Worley, Kim C.; del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; 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; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard 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.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K. -G.; Tan, Amelia L. M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Boycott, Kym; Brudno, Michael; Bernier, Francois; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha
Journal of Medical Genetics. 60:1092-1104
Academic Journal
Price TR; Department of Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Hodgkinson V; Department of Clinical Neurosciences, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Westbury G; Department of Clinical Neurosciences, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Korngut L; Department of Clinical Neurosciences, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Innes MA; Departments of Pediatrics and Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Nelson TN; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Huang L; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Parboosingh J; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Mah JK; Department of Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Publisher: published by Cambridge University Press for the Canadian Neurological Sciences Federation Country of Publication: England NLM ID: 0415227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0317-1671 (Print) Linking ISSN: 03171671 NLM ISO Abbreviation: Can J Neurol Sci Subsets: MEDLINE
Academic Journal
Lazier, Joanna; Hartley, Taila; Brock, Jo-Ann; Caluseriu, Oana; Chitayat, David; Laberge, Anne-Marie; Langlois, Sylvie; Lauzon, Julie; Nelson, Tanya N.; Parboosingh, Jillian; Stavropoulos, Dimitri J.; Boycott, Kym; Armour, Christine M.
Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p931-937, 7p
Academic Journal
Shaheen, Ranad ; Shamseldin, Hanan E. ; Loucks, Catrina M. ; Seidahmed, Mohammed Zain ; Ansari, Shinu ; Ibrahim Khalil, Mohamed ; Al-Yacoub, Nadya ; Davis, Erica E. ; Mola, Natalie A. ; Szymanska, Katarzyna ; Herridge, Warren ; Chudley, Albert E. ; Chodirker, Bernard N. ; Schwartzentruber, Jeremy ; Majewski, Jacek ; Katsanis, Nicholas ; Poizat, Coralie ; Johnson, Colin A. ; Parboosingh, Jillian ; Boycott, Kym M. ; Innes, A. Micheil ; Alkuraya, Fowzan S.
In The American Journal of Human Genetics 2 January 2014 94(1):73-79
Academic Journal
Grafodatskaya, Daria; O'Rielly, Darren D.; Bedard, Karine; Butcher, Darci T.; Howlett, Christopher J.; Lytwyn, Alice; McCready, Elizabeth; Parboosingh, Jillian; Spriggs, Elizabeth L.; Vaags, Andrea K.; Stockley, Tracy L.
Journal of Medical Genetics; Aug2022, Vol. 59 Issue 8, p727-736, 10p
Academic Journal
Guadagni, Veronica; Byles, Hannah; Tyndall, Amanda V.; Parboosingh, Jillian; Longman, Richard Stewart; Hogan, David B.; Hanly, Patrick J.; Younes, Magdy; Poulin, Marc J.
Academic Journal
Eaton, Alison; Hartley, Taila; Kernohan, Kristin; Ito, Yoko; Lamont, Ryan; Parboosingh, Jillian; Barrowman, Nick; Innes, A. Micheil; Boycott, Kym
Academic Journal
Weng, Patricia; Majmundar, Amar; Khan, Kamal; Lim, Tze; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina; Aggarwal, Vimla; Bier, Louise; Heinzen, Erin; Onuchic-Whitford, Ana; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo; Altmüller, Janine; Benz, Marcus; Yano, Shoji; Mikati, Mohamad; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa; Martinez-Agosto, Julian; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda; Parboosingh, Jillian; Innes, A; Bierzynska, Agnieszka; Koziell, Ania; Muorah, Mordi; Saleem, Moin; Hoefele, Julia; Riedhammer, Korbinian; Gharavi, Ali; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor; ODonnell-Luria, Anne; Rehm, Heidi; Mane, Shrikant; DAgati, Vivette; Pollak, Martin; Ghiggeri, Gian; Lifton, Richard; Goldstein, David; Davis, Erica; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone
American Journal of Human Genetics, vol 108, iss 2
Academic Journal
Hume, Stacey; Nelson, Tanya N.; Speevak, Marsha; McCready, Elizabeth; Agatep, Ron; Feilotter, Harriet; Parboosingh, Jillian; Stavropoulos, Dimitri J.; Taylor, Sherryl; Stockley, Tracy L.
Journal of Medical Genetics; Dec2019, Vol. 56 Issue 12, p792-800, 9p
Academic Journal
Sheldon, Robert; Rose, M. Sarah; Ritchie, Debbie; Martens, Kristina; Maxey, Connor; Jagers, Jennie; Parboosingh, Jillian; Gerull, Brenda
Circulation: Arrhythmia and Electrophysiology. Jan 01, 2019 12(1):e006884-e006884
Academic Journal
Christian, Susan; Atallah, Joseph; Clegg, Robin; Giuffre, Michael; Huculak, Cathleen; Dzwiniel, Tara; Parboosingh, Jillian; Taylor, Sherryl; Somerville, Martin
Journal of Genetic Counseling; Feb2018, Vol. 27 Issue 1, p124-130, 7p
Academic Journal
Mighton, Chloe; Smith, Amanda C.; Mayers, Justin; Tomaszewski, Robert; Taylor, Sherryl; Hume, Stacey; Agatep, Ron; Spriggs, Elizabeth; Feilotter, Harriet E.; Semenuk, Laura; Wong, Henry; Lazo de la Vega, Lorena; Marshall, Christian R.; Axford, Michelle M.; Silver, Talia; Charames, George S.; Di Gioacchino, Vanessa; Watkins, Nicholas; Foulkes, William D.; Clavier, Marcos; Hamel, Nancy; Chong, George; Lamont, Ryan E.; Parboosingh, Jillian; Karsan, Aly; Bosdet, Ian; Young, Sean S.; Tucker, Tracy; Akbari, Mohammad Reza; Speevak, Marsha D.; Vaags, Andrea K.; Lebo, Matthew S.; Lerner-Ellis, Jordan; Canadian Open Genetics Repository
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[AR] Parboosingh, Jillian
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