학술논문
'학술논문'
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1~10
Academic Journal
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.; 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; Cole, F. Sessions; 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.; 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; 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; Lalani, Seema R.; 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.; Maghiro, AudreyStephannie; 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.; Martínez-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.; Nicholas, Sarah K.; 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 III, 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.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; 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; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Nigro, Vincenzo; Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Pinelli, Michele; Banfi, Sandro; Varavallo, Alessandra; Selicorni, Angelo; Mariani, Milena; Massimello, Marta; Daolio, Cecilia; Capra, Valeria; Accogli, Andrea; Scala, Marcello; Leuzzi, Vincenzo; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Milani, Donatella; Vitiello, Giuseppina; Piluso, Giulio; Romano, Corrado; Failla, Pinella; Greco, Donatella; Pantaleoni, Chiara; Ciaccio, Claudia; D’Arrigo, Stefano; Brunetti Pierri, Nicola; Parenti, Giancarlo; Coppola, Antonietta; Mattina, Teresa; Zollino, Marcella; Amenta, Simona; Tummolo, Albina; Santoro, Claudia; Grandone, Anna; De Brasi, Daniele; Varone, Antonio; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Piscopo, Carmelo; Trabacca, Antonio; De Rinaldis, Marta; Peron, Angela; Venditti, Rossella; Theodorou, Evangelos; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeannine; Ejaz, Resham; Rodan, Lance; Agrawal, Pankaj B.; Del Bene, Filippo; Franco, Brunella
In The American Journal of Human Genetics 3 August 2023 110(8):1377-1393
Academic Journal
Mithoowani, Siraj; Cervi, Andrea; Shah, Nishwa; Ejaz, Resham; Sirotich, Emily; Barty, Rebecca; Li, Na; Nazy, Ishac; Arnold, Donald M.
In Journal of Thrombosis and Haemostasis July 2020 18(7):1783-1790
Academic Journal
Man, Alice; Di Scipio, Matteo; Grewal, Shan; Suk, Yujin; Trinari, Elisabetta; Ejaz, Resham; Whitney, Robyn
Book
In The Hospital for Sick Children Handbook of Pediatrics Edition: Twelfth Edition. 2022:668-690
Bechard, Melanie; Helmers, Andrew; McLean, Lianne J.; Lirette, Marie-Pier; Harel-Sterling, Maya; Baran, Iwona; Beno, Suzanne; Ladha, Zamin; Thau, Elana; Ratnapalan, Savithiri; Daya, Tahira; Isaac, Lisa; Pancer, Zachary; Gilley, Meghan; Pirie, Jonathan; Singh, Valene; Martin, Samantha; Toulany, Alene; Erdle, Stephanie; Conway, Melanie; Atkinson, Adelle R.; Fridman, Michael D.; Wong, Jonathan; Papneja, Koyelle; Russell, Jennifer L.; Agarwal, Tanvi; Wang, Rebecca; April, Elodie; Cho, Romy; Smith, Jennifer; Morgan, Rodd; Ho, Jane; Masse, Shonna; Morrissey, Laura; Tantuco, Kimberly; Levy, Rebecca; Tilly-Gratton, Audrey; Nguyen, Claire K.; Doig, Jenna; Makino, Amber; Jamal, Alisha; Traubici, Jeffrey; Sowemimo, Joju; Sorbara, Julia; Wasserman, Jonathan D.; Betcherman, Laura; Ulrich, Emma; Sullivan, Katie; Noone, Damien; Kellar, Ameilia; Crowley, Eileen; Walters, Thomas; Hagel, Jonathon; Wolinska, Justyna M.; Azzie, Georges; Mahjoub, Areej; Costain, Gregory; Mendoza-Londono, Roberto; Lam, Justin; Kinlin, Laura; van den Heuvel, Meta; Alexanian-Farr, Mara; Bar-Dayan, Alisa; Beaulieu, Jordan; Gallagher, Kelsey; Kalnins, Daina; Steinberg, Alissa; Tuira, Lori; Vresk, Laura; Welch, Kellie; Currie, Caroline; Mclean, Laura; Sullivan, Samantha; Graham, Ashley; Friedman, Lauren; Millar, Heather; Aggarwal, Anjali; Yan, Adam; Cabric, Vanja; Tole, Soumitra; Cada, Michaela; Scott, Ori; Aujnarain, Amiirah; Kim, Vy; Blanchard, Ana C.; Sud, Shama; Morris, Shaun K.; Giroux, Ryan; Tam, Jennifer; Bitnun, Ari; Salmers, Gabrielle; Korczak, Daphne J.; Krueger, Carsten; Ejaz, Resham; Sondheimer, Neal; Zipursky, Amy; DiLabio, Julia; Kulkarni, Tapas; Moore, Aideen; Riedl, Magdalena; Downie, Mallory L.; Blais, Anne Sophie; Santos, Joana Dos; Radhakrishnan, Seetha; Djordjevic, Djurdja; Chatur, Nurin; Go, Cristina Y.; Kulkarni, Abhaya; Pulcine, Liza; Lu, Amy; Nuaimi, Mohammed Al; Pabari, Reena; Gupta, Sumit; Thompson, Shelby; Ali, Asim; Shorkey, Allyson; Narayanan, Unni; Greenspoon, Talia; Cushing, Sharon L.; Kaufman, Laura; Davidge, Kristen M.; Groves, Tyler; Wee, Wallace B.; Moraes, Theo J.; She, Desmond; Dissanayake, Dilan; Tse, Shirley M.L.; Sharma, Suparna; Marano, Maria; Amin, Reshma; Mahant, Sanjay; Duan, Lucy; Woolfson, Jessica P.; Roestel, Krista Van; Ng, Vicky; Adeli, Khosrow; Richardson, Susan; Liu, En; Lau, Wendy; Jung, Benjamin; Higgins, Victoria; Bohn, Mary Kathryn; Lau, Elaine
In The Hospital for Sick Children Handbook of Pediatrics Edition: Twelfth Edition. 2022:xiii-xvii
Academic Journal
Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Undiagnosed Dis NetworK, Elena; Telethon Undiagnosed Dis Program, Luigi; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L. I.; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeannine; Ejaz, Resham; Rodan, Lance; Zollino, Marcella; Agrawal, Pankaj B.; Del Bene, Filippo; Nigro, Vincenzo; Sweetser, David A.; Franco, Brunella; Shi, JH
Academic Journal
BMJ Case Reports; Dec2022, Vol. 15 Issue 12, p1-7, 7p
Academic Journal
Mithoowani, Siraj; Cervi, Andrea ; Shah, Nishwa ; Ejaz, Resham ; Barty, Rebecca ; Li, Na ; Nazy, Ishac; Arnold, Donald M.
In Blood 29 November 2018 132 Supplement 1:3517-3517
Academic Journal
Neurology: Genetics. Oct 01, 2021 7(5):e618-e618
Academic Journal
Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester; van Gassen, Koen L. I.; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeanne; Ejaz, Resham; Rodan, Lance; Zollino, Marcella; Agrawal, Pankaj B.; Del Bene, Filippo; Sweetser, David A.; Franco, Brunella; Nigro, Vincenzo
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[AR] Ejaz, Resham
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