학술논문
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'학술논문'
에서 검색결과 179건 | 목록
1~20
Migliavacca, Michele Patricia; Fock, Rodrigo Ambrosio; Almeida, Nadia; Cavalcanti, Thereza; Villela, Darine; Perez, Ana Beatriz Alvarez; Valle, David; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Raskin, Salmo
Revista Paulista de Pediatria, Volume: 41, Article number: e2022057, Published: 07 APR 2023. April 2023
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
Academic Journal
Devane, John ; Ott, Elisabeth ; Olinger, Eric G. ; Epting, Daniel ; Decker, Eva ; Friedrich, Anja ; Bachmann, Nadine ; Renschler, Gina ; Eisenberger, Tobias ; Briem-Richter, Andrea ; Grabhorn, Enke Freya ; Powell, Laura ; Wilson, Ian J. ; Rice, Sarah J. ; Miles, Colin G. ; Wood, Katrina ; Trivedi, Palak ; Hirschfield, Gideon ; Pietrobattista, Andrea ; Wohler, Elizabeth ; Mezina, Anya ; Sobreira, Nara ; Agolini, Emanuele ; Maggiore, Giuseppe ; Dahmer-Heath, Mareike ; Yilmaz, Ali ; Boerries, Melanie ; Metzger, Patrick ; Schell, Christoph ; Grünewald, Inga ; Konrad, Martin ; König, Jens ; Schlevogt, Bernhard ; Sayer, John A. ; Bergmann, Carsten
In The American Journal of Human Genetics 5 May 2022 109(5):928-943
Academic Journal
Adams, Marcia; Aguet, François; Akay, Gulsen; Anderson, Peter; Antonescu, Corina; Arachchi, Harindra M.; Atik, Mehmed M.; Austin-Tse, Christina A.; Babb, Larry; Bacus, Tamara J.; Bahrambeigi, Vahid; Balasubramanian, Suganthi; Bayram, Yavuz; Beaudet, Arthur L.; Beck, Christine R.; Belmont, John W.; Below, Jennifer E.; Bilguvar, Kaya; Boehm, Corinne D.; Boerwinkle, Eric; Boone, Philip M.; Bowne, Sara J.; Brand, Harrison; Buckingham, Kati J.; Byrne, Alicia B.; Calame, Daniel; Campbell, Ian M.; Cao, Xiaolong; Carvalho, Claudia; Chander, Varuna; Chang, Jaime; Chao, Katherine R.; Chinn, Ivan K.; Clarke, Declan; Collins, Ryan L.; Cummings, Beryl; Dardas, Zain; Dawood, Moez; Delano, Kayla; DiTroia, Stephanie P.; Doddapaneni, Harshavardhan; Du, Haowei; Du, Renqian; Duan, Ruizhi; Eldomery, Mohammad; Eng, Christine M.; England, Eleina; Evangelista, Emily; Everett, Selin; Fatih, Jawid; Felsenfeld, Adam; Francioli, Laurent C.; Frazar, Christian D.; Fu, Jack; Gamarra, Emmanuel; Gambin, Tomasz; Gan, Weiniu; Gandhi, Mira; Ganesh, Vijay S.; Garimella, Kiran V.; Gauthier, Laura D.; Giroux, Danielle; Gonzaga-Jauregui, Claudia; Goodrich, Julia K.; Gordon, William W.; Griffith, Sean; Grochowski, Christopher M.; Gu, Shen; Gudmundsson, Sanna; Hall, Stacey J.; Hansen, Adam; Harel, Tamar; Harmanci, Arif O.; Herman, Isabella; Hetrick, Kurt; Hijazi, Hadia; Horike-Pyne, Martha; Hsu, Elvin; Hu, Jianhong; Huang, Yongqing; Hurless, Jameson R.; Jahl, Steve; Jarvik, Gail P.; Jiang, Yunyun; Johanson, Eric; Jolly, Angad; Karaca, Ender; Khayat, Michael; Knight, James; Kolar, J. Thomas; Kumar, Sushant; Lalani, Seema; Laricchia, Kristen M.; Larkin, Kathryn E.; Leal, Suzanne M.; Lemire, Gabrielle; Lewis, Richard A.; Li, He; Ling, Hua; Lipson, Rachel B.; Liu, Pengfei; Lovgren, Alysia Kern; López-Giráldez, Francesc; MacMillan, Melissa P.; Mangilog, Brian E.; Mano, Stacy; Marafi, Dana; Marosy, Beth; Marshall, Jamie L.; Martin, Renan; Marvin, Colby T.; Mawhinney, Michelle; McGee, Sean; McGoldrick, Daniel J.; Mehaffey, Michelle; Mekonnen, Betselote; Meng, Xiaolu; Mitani, Tadahiro; Miyake, Christina Y.; Mohr, David; Morris, Shaine; Mullen, Thomas E.; Murdock, David R.; Murugan, Mullai; Muzny, Donna M.; Myers, Ben; Neira, Juanita; Nguyen, Kevin K.; Nielsen, Patrick M.; Nudelman, Natalie; O’Heir, Emily; O’Leary, Melanie C.; Ongaco, Chrissie; Orange, Jordan; Osei-Owusu, Ikeoluwa A.; Paine, Ingrid S.; Pais, Lynn S.; Paschall, Justin; Patterson, Karynne; Pehlivan, Davut; Pelle, Benjamin; Penney, Samantha; Perez de Acha Chavez, Jorge; Pierce-Hoffman, Emma; Poli, Cecilia M.; Punetha, Jaya; Radhakrishnan, Aparna; Richardson, Matthew A.; Rodrigues, Eliete; Roote, Gwendolin T.; Rosenfeld, Jill A.; Ryke, Erica L.; Sabo, Aniko; Sanchez, Alice; Schrauwen, Isabelle; Scott, Daryl A.; Sedlazeck, Fritz; Serrano, Jillian; Shaw, Chad A.; Shelford, Tameka; Shively, Kathryn M.; Singer-Berk, Moriel; Smith, Joshua D.; Snow, Hana; Snyder, Grace; Solomonson, Matthew; Son, Rachel G.; Song, Xiaofei; Stankiewicz, Pawel; Stephan, Taylorlyn; Sutton, V. Reid; Sveden, Abigail; Sánchez, Diana Cornejo; Tackett, Monica; Talkowski, Michael; Threlkeld, Machiko S.; Tiao, Grace; Udler, Miriam S.; Vail, Laura; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Wang, Gao; Wang, Lu; Wangler, Michael F.; Watts, Nicholas A.; Weisburd, Ben; Weiss, Jeffrey M.; Wheeler, Marsha M.; White, Janson J.; Williamson, Clara E.; Wilson, Michael W.; Wiszniewski, Wojciech; Withers, Marjorie A.; Witmer, Dane; Witzgall, Lauren; Wohler, Elizabeth; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Wu, Nan; Xing, Jinchuan; Yang, Yaping; Yi, Qian; Yuan, Bo; Zeiger, Jordan E.; Zhang, Chaofan; Zhang, Peng; Zhang, Yan; Zhang, Xiaohong; Zhang, Yeting; Zhang, Shifa; Zoghbi, Huda; van den Veyver, Igna; Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J. ; Sobreira, Nara ; Chong, Jessica X. ; Buyske, Steven ; Blue, Elizabeth E. ; Chadwick, Lisa H. ; Coban-Akdemir, Zeynep H. ; Doheny, Kimberly F. ; Davis, Colleen P. ; Lek, Monkol ; Wellington, Christopher ; Jhangiani, Shalini N. ; Gerstein, Mark ; Gibbs, Richard A. ; Lifton, Richard P. ; MacArthur, Daniel G. ; Matise, Tara C. ; Lupski, James R. ; Valle, David ; Bamshad, Michael J. ; Hamosh, Ada ; Mane, Shrikant ; Nickerson, Deborah A. ; Rehm, Heidi L. ; O’Donnell-Luria, Anne
In Genetics in Medicine April 2022 24(4):784-797
Academic Journal
Khairat, Rabab ; Elhossini, Rasha ; Sobreira, Nara ; Wohler, Elizabeth ; Otaify, Ghada ; Mohamed, Amal M. ; Abdel Raouf, Ehab R. ; Sayed, Inas ; Aglan, Mona ; Ismail, Samira ; Temtamy, Samia A.
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Arif, Beenish ; Rasheed, Arisha ; Kumar, Kishore R. ; Fatima, Amara ; Abbas, Ghazanfar ; Wohler, Elizabeth ; Sobriera, Nara ; Lohmann, Katja ; Naz, Sadaf
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine ; Rabionet, Raquel ; Blanco-Sánchez, Bernardo ; Yang, Sandra ; Reijnders, Margot R.F. ; van Essen, Antonie J. ; Oufadem, Myriam ; Vigeland, Magnus D. ; Stadheim, Barbro ; Houge, Gunnar ; Cox, Helen ; Kingston, Helen ; Clayton-Smith, Jill ; Innis, Jeffrey W. ; Iascone, Maria ; Cereda, Anna ; Gabbiadini, Sara ; Chung, Wendy K. ; Sanders, Victoria ; Charrow, Joel ; Bryant, Emily ; Millichap, John ; Vitobello, Antonio ; Thauvin, Christel ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Lesca, Gaetan ; Labalme, Audrey ; Rougeot, Christelle ; Chatron, Nicolas ; Sanlaville, Damien ; Christensen, Katherine M. ; Kirby, Amelia ; Lewandowski, Raymond ; Gannaway, Rachel ; Aly, Maha ; Lehman, Anna ; Clarke, Lorne ; Graul-Neumann, Luitgard ; Zweier, Christiane ; Lessel, Davor ; Lozic, Bernarda ; Aukrust, Ingvild ; Peretz, Ryan ; Stratton, Robert ; Smol, Thomas ; Dieux-Coëslier, Anne ; Meira, Joanna ; Wohler, Elizabeth ; Sobreira, Nara ; Beaver, Erin M. ; Heeley, Jennifer ; Briere, Lauren C. ; High, Frances A. ; Sweetser, David A. ; Walker, Melissa A. ; Keegan, Catherine E. ; Jayakar, Parul ; Shinawi, Marwan ; Kerstjens-Frederikse, Wilhelmina S. ; Earl, Dawn L. ; Siu, Victoria M. ; Reesor, Emma ; Yao, Tony ; Hegele, Robert A. ; Vaske, Olena M. ; Rego, Shannon ; Shapiro, Kevin A. ; Wong, Brian ; Gambello, Michael J. ; McDonald, Marie ; Karlowicz, Danielle ; Colombo, Roberto ; Serretti, Alessandro ; Pais, Lynn ; O’Donnell-Luria, Anne ; Wray, Alison ; Sadedin, Simon ; Chong, Belinda ; Tan, Tiong Y. ; Christodoulou, John ; White, Susan M. ; Slavotinek, Anne ; Barbouth, Deborah ; Morel Swols, Dayna ; Parisot, Mélanie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Pingault, Véronique ; Munnich, Arnold ; Cho, Megan T. ; Cormier-Daire, Valérie ; Balcells, Susanna ; Lyonnet, Stanislas ; Grinberg, Daniel ; Amiel, Jeanne ; Urreizti, Roser ; Gordon, Christopher T.
In Genetics in Medicine July 2020 22(7):1215-1226
Academic Journal
Webb, John M.; Abderemane-Ali, Fayal; Ashbrook, Liza; Mingyang Ma; Nibber, Neha; Xianlin Zou; Maya Yamazaki; Wohler, Elizabeth; Sobreira, Nara; Minor Jr., Daniel L.; Ying-Hui Fu; Ptáček, Louis J.
Academic Journal
Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A; Russell, Bianca E; Wilk, Brandon M; Mitchell, Breanna; Lanpher, Brendan C; Lee, Brendan H; Fogel, Brent L; Bordini, Brett; Graham, Brett H; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A; Burke, Elizabeth A; Blue, Elizabeth; Chao, Elizabeth C; Fieg, Elizabeth L; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E; McRoy, Erin; Dell'Angelica, Esteban C; Ashley, Euan A; Cole, F Sessions; Vairo, Filippo Pinto E; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M; Marth, Gabor; Jarvik, Gail P; Clark, Gary D; Carvalho, George; Berry, Gerard T; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J; Zhang, Hui; Glass, Ian; Lanza, Ian R; Holm, Ingrid A; Kohane, Isaac S; Ward, Isum; Chinn, Ivan; Pallais, J Carl; Sampson, Jacinda B; Orengo, James P; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, Matthew; Wheeler, Matthew T; Malicdan, MayChristine V; Bell, Megan; Halley, Meghan C; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F; Muriello, Michael; Zimmermann, Michael T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; Parker, Neil H; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M; Dargie, Nitsuh K; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C; Moretti, Paolo; Ward, Patricia A; Dickson, Patricia; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; Serrano, Teodoro Jerves; Coakley, Terra R; Cassini, Thomas; Nicholas, Thomas J; Schedl, Timothy; Vogel, Tiphanie P; Jobanputra, Vaidehi; Maduro, Valerie V; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A; Byrd, William E; Craigen, William J; Halstead, Winston; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan
Genome Medicine. October 21, 2025, Vol. 17 Issue 1
Academic Journal
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Henderson, Lindsay B. ; Applegate, Carolyn D. ; Wohler, Elizabeth ; Sheridan, Molly B. ; Hoover-Fong, Julie ; Batista, Denise A.S.
In Genetics in Medicine September 2014 16(9):657-664
Academic Journal
Kim, Sun Young; Wohler, Elizabeth; Gutierrez, Maria Jimena; Sadreameli, Christy; Kossoff, Eric; Sobreira, Nara Lygia
American Journal of Medical Genetics. Part A; Mar2025, Vol. 197 Issue 3, p1-6, 6p
Academic Journal
Poll, Sarah R.; Martin, Renan; Wohler, Elizabeth; Partan, Elizabeth S.; Walek, Elizabeth; Salman, Shaima; Groepper, Daniel; Kratz, Lisa; Cernach, Mirlene; Jesus-Garcia, Reynaldo; Haldeman-Englert, Chad; Choi, Yoon Jae; Morris, Carol D.; Cohen, Bernard; Hoover-Fong, Julie; Valle, David; Semenza, Gregg L.; Sobreira, Nara L. M.
Academic Journal
Wohler, Elizabeth; Martin, Renan; Griffith, Sean; Rodrigues, Eliete da S.; Antonescu, Corina; Posey, Jennifer E.; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Hamosh, Ada; Sobreira, Nara
Academic Journal
Jelin, Angie C.; Sopko, Nikolai; Sobreira, Nara; Boyadjiev, Simeon A.; Wohler, Elizabeth; Morrill, Christian; Witmer, P. Dane; Michaud, Jason; Valle, David; Gearhart, John; Dicarlo, Heather
Frontiers in Genetics; 2024, p1-7, 7p
Academic Journal
Jelin, Angie C.; Wohler, Elizabeth; Martin, Renan; Di Carlo, Heather; Isaacs, William; Ko, Joan; Michaud, Jason; Blakemore, Karin; Valle, David; Sobreira, Nara; Gearhart, John
American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-7, 7p
Academic Journal
de Cássia Collaço, Rita; Lammens, Maxime; Blevins, Carley; Rodgers, Kristen; Gurau, Andrei; Yamauchi, Suguru; Kim, Christine; Forrester, Jeannine; Liu, Edward; Ha, Jinny; Mei, Yuping; Boehm, Corrine; Wohler, Elizabeth; Sobreira, Nara; Rowe, Peter C.; Valle, David; Brock, Malcolm V.; Bosmans, Frank
Academic Journal
Aslam F; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Cedars Sinai Guerin Children's, Los Angeles, CA, USA.; Wajid M; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.; Butt AI; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.; Wohler E; McKusick-Nathans Department of Genetic Medicine, John Hopkins University, Baltimore, MD, USA.; Seo GH; 3 billion inc, Seoul, South Korea.; Ji W; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Lakhani SA; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Cedars Sinai Guerin Children's, Los Angeles, CA, USA.; Sobreira N; McKusick-Nathans Department of Genetic Medicine, John Hopkins University, Baltimore, MD, USA.; Naz S; School of Biological Sciences, University of the Punjab, Lahore, Pakistan. naz.sbs@pu.edu.pk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Academic Journal
In Genetics in Medicine March 2022 24(3) Supplement:S159-S159
Academic Journal
Sharif, Kayvon; Tierney, William S.; Davis, Ruth J.; Wohler, Elizabeth; Sobreira, Nara; Hillel, Alexander T.; Collins, Samuel; Ramirez‐Solano, Marisol; Sheng, Quanhu; Gelbard, Alexander
Laryngoscope; Nov2023, Vol. 133 Issue 11, p3049-3056, 8p
Academic Journal
Rebello, Denise; Wohler, Elizabeth; Erfani, Vida; Li, Guozhuang; Aguilera, Alexya N; Santiago-Cornier, Alberto; Zhao, Sen; Hwang, Steven W; Steiner, Robert D; Zhang, Terry Jianguo; Gurnett, Christina A; Raggio, Cathleen; Wu, Nan; Sobreira, Nara; Giampietro, Philip F; Ciruna, Brian
Human Molecular Genetics; 10/1/2023, Vol. 32 Issue 19, p2913-2928, 16p
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