학술논문
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'학술논문'
에서 검색결과 182건 | 목록
1~20
Academic Journal
Roesch, Sebastian ; O'Sullivan, Anna ; Tschani, Stefan ; Baghdasaryan, Anna ; Balasubramaniam, Shanti ; Barić, Ivo ; de Boer, Lonneke ; Grünert, Sarah C. ; Guzek, Anna ; Janssen, Mirian ; Krumina, Zita ; Koenig, Mary Kay ; Lewkowitz, Ashleigh M. ; Mochel, Fanny ; Naldi, Arianne Monge ; Plecko, Barbara ; Öztürk, Kerem ; O'Grady, Lauren ; Riordan, Gillian ; Rymen, Daisy ; Sahai, Inderneel ; Santer, René ; Schiff, Manuel ; Stettner, Georg M. ; Tsiakas, Konstantinos ; Uçar, Sema Kalkan ; Uzun, Özlem Ünal ; Weigel, Corina ; Witters, Peter ; Merkevicius, Kajus ; Mayr, Johannes A. ; Wortmann, Saskia B. ; Iwanicka-Pronicka, Katarzyna
In Molecular Genetics and Metabolism July 2025
Academic Journal
Torene, Rebecca I. ; Guillen Sacoto, Maria J. ; Millan, Francisca ; Zhang, Zhancheng ; McGee, Stephen ; Oetjens, Matthew ; Heise, Elizabeth ; Chong, Karen ; Sidlow, Richard ; O’Grady, Lauren ; Sahai, Inderneel ; Martin, Christa L. ; Ledbetter, David H. ; Myers, Scott M. ; Mitchell, Kevin J. ; Retterer, Kyle
In The American Journal of Human Genetics 4 January 2024 111(1):70-81
Academic Journal
Huang, Yue ; Sharma, Rajesh ; Feigenbaum, Annette ; Lee, Chung ; Sahai, Inderneel ; Sanchez Russo, Rossana ; Neira, Juanita ; Brooks, Susan Sklower ; Jackson, Kelly E. ; Wong, Derek ; Cederbaum, Stephen ; Lacbawan, Felicitas L. ; Rowland, Charles M. ; Tanpaiboon, Pranoot ; Salazar, Denise
In Molecular Genetics and Metabolism Reports June 2021 27
Academic Journal
Hale, Jaime E. ; Platt, Craig D. ; Bonilla, Francisco A. ; Hay, Beverly N. ; Sullivan, John L. ; Johnston, Alicia M. ; Pasternack, Mark S. ; Hesterberg, Paul E. ; Meissner, H. Cody ; Cooper, Ellen R. ; Barmettler, Sara ; Farmer, Jocelyn R. ; Fisher, Donna ; Walter, Jolan E. ; Yang, Nancy J. ; Sahai, Inderneel ; Eaton, Roger B. ; DeMaria, Alfred ; Notarangelo, Luigi D. ; Pai, Sung-Yun ; Comeau, Anne Marie
In The Journal of Allergy and Clinical Immunology: In Practice May 2021 9(5):2060-2067
Academic Journal
O'Grady, Lauren ; Gold, Nina ; Karaa, Amel ; Zouk, Hana ; He, Wei ; Zoltick, Emilie ; Sahai, Inderneel ; Perez, Emma ; Green, Robert
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Zytkovicz, Thomas H. ; Sahai, Inderneel; Rush, Amii; Odewale, Adedoyin; Johnson, Donna; Fitzgerald, Eileen; Britton, Deborah; Eaton, Roger B.
In Clinical Biochemistry May 2013 46(7-8):681-684
Academic Journal
Keefe, Alexandra C.; Jensen, Dana M.; Pham, Meranda M.; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M.; Kruszka, Paul; Vats, Divya; Russell, Bianca E.; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D.; Hallinan, Barbara E.
NPJ Genomic Medicine; 5/9/2025, Vol. 10 Issue 1, p1-6, 6p
Academic Journal
Grady, Lauren O′; Zoltick, Emilie S.; Zouk, Hana; He, Wei; Perez, Emma; Clarke, Lorne; Gold, Jessica; Strong, Alanna; Sahai, Inderneel; Yeo, Julie; Green, Robert C.; Karaa, Amel; Gold, Nina B.
American Journal of Medical Genetics. Part A; Apr2025, Vol. 197 Issue 4, p1-6, 6p
Academic Journal
Marquardt, Gregg ; Currier, Robert ; McHugh, David M.S. ; Gavrilov, Dimitar ; Magera, Mark J. ; Matern, Dietrich ; Oglesbee, Devin ; Raymond, Kimiyo ; Rinaldo, Piero ; Smith, Emily H. ; Tortorelli, Silvia ; Turgeon, Coleman T. ; Lorey, Fred ; Wilcken, Bridget ; Wiley, Veronica ; Greed, Lawrence C. ; Lewis, Barry ; Boemer, François ; Schoos, Roland ; Marie, Sandrine ; Vincent, Marie-Françoise ; Sica, Yuri Cleverthon ; Domingos, Mouseline Torquado ; Al-Thihli, Khalid ; Sinclair, Graham ; Al-Dirbashi, Osama Y. ; Chakraborty, Pranesh ; Dymerski, Mark ; Porter, Cory ; Manning, Adrienne ; Seashore, Margretta R. ; Quesada, Jonessy ; Reuben, Alejandra ; Chrastina, Petr ; Hornik, Petr ; Mandour, Iman Atef ; Sharaf, Sahar Abdel Atty ; Bodamer, Olaf ; Dy, Bonifacio ; Torres, Jasmin ; Zori, Roberto ; Cheillan, David ; Vianey-Saban, Christine ; Ludvigson, David ; Stembridge, Adrya ; Bonham, Jim ; Downing, Melanie ; Dotsikas, Yannis ; Loukas, Yannis L. ; Papakonstantinou, Vagelis ; Zacharioudakis, Georgios S.A. ; Baráth, Ákos ; Karg, Eszter ; Franzson, Leifur ; Jonsson, Jon J. ; Breen, Nancy N. ; Lesko, Barbara G. ; Berberich, Stanton L. ; Turner, Kimberley ; Ruoppolo, Margherita ; Scolamiero, Emanuela ; Antonozzi, Italo ; Carducci, Claudia ; Caruso, Ubaldo ; Cassanello, Michela ; Marca, Giancarlo la ; Pasquini, Elisabetta ; Di Gangi, Iole Maria ; Giordano, Giuseppe ; Camilot, Marta ; Teofoli, Francesca ; Manos, Shawn M. ; Peterson, Colleen K. ; Mayfield Gibson, Stephanie K. ; Sevier, Darrin W. ; Lee, Soo-Youn ; Park, Hyung-Doo ; Khneisser, Issam ; Browning, Phaidra ; Gulamali-Majid, Fizza ; Watson, Michael S. ; Eaton, Roger B. ; Sahai, Inderneel ; Ruiz, Consuelo ; Torres, Rosario ; Seeterlin, Mary A. ; Stanley, Eleanor L. ; Hietala, Amy ; McCann, Mark ; Campbell, Carlene ; Hopkins, Patrick V. ; de Sain–Van der Velden, Monique G. ; Elvers, Bert ; Morrissey, Mark A. ; Sunny, Sherlykutty ; Knoll, Detlef ; Webster, Dianne ; Frazier, Dianne M. ; McClure, Julie D. ; Sesser, David E. ; Willis, Sharon A. ; Rocha, Hugo ; Vilarinho, Laura ; John, Catharine ; Lim, James ; Caldwell, S. Graham ; Tomashitis, Kathy ; Castiñeiras Ramos, Daisy E. ; de Juan, Jose Angel Cocho ; Fernández, Inmaculada Rueda ; Macías, Raquel Yahyaoui ; Egea-Mellado, José María ; González-Gallego, Inmaculada ; Pecellin, Carmen Delgado ; Bermejo, Maria Sierra García-Valdecasas ; Chien, Yin-Hsiu ; Hwu, Wuh-Liang ; Childs, Thomas ; McKeever, Christine D. ; Tanyalcin, Tijen ; Abdulrahman, Mahera ; Queijo, Cecilia ; Lemes, Aída ; Davis, Tim ; Hoffman, William ; Baker, Mei ; Hoffman, Gary L.
In Genetics in Medicine July 2012 14(7):648-655
Patel, Sonali ; Zain-ul-abideen, Muhammad ; Guyol, Genevieve ; Rodan, Lance H. ; Genetti, Casie A. ; Ren, Amy Z. ; Connors, Philip ; Davenport, Patricia ; Bartolome, Ruby ; Sahai, Inderneel ; Ganesh, Vijay S. ; Wojcik, Monica H.
In Molecular Genetics and Metabolism Reports June 2025 43
Academic Journal
McHugh, David M.S. ; Cameron, Cynthia A. ; Abdenur, Jose E. ; Abdulrahman, Mahera ; Adair, Ona ; Al Nuaimi, Shahira Ahmed ; Åhlman, Henrik ; Allen, Jennifer J. ; Antonozzi, Italo ; Archer, Shaina ; Au, Sylvia ; Auray-Blais, Christiane ; Baker, Mei ; Bamforth, Fiona ; Beckmann, Kinga ; Pino, Gessi Bentz ; Berberich, Stanton L. ; Binard, Robert ; Boemer, François ; Bonham, Jim ; Breen, Nancy N. ; Bryant, Sandra C. ; Caggana, Michele ; Caldwell, S. Graham ; Camilot, Marta ; Campbell, Carlene ; Carducci, Claudia ; Cariappa, Rohit ; Carlisle, Clover ; Caruso, Ubaldo ; Cassanello, Michela ; Castilla, Ane Miren ; Ramos, Daisy E Castiñeiras ; Chakraborty, Pranesh ; Chandrasekar, Ram ; Ramos, Alfredo Chardon ; Cheillan, David ; Chien, Yin-Hsiu ; Childs, Thomas A. ; Chrastina, Petr ; Sica, Yuri Cleverthon ; de Juan, Jose Angel Cocho ; Colandre, Maria Elena ; Espinoza, Veronica Cornejo ; Corso, Gaetano ; Currier, Robert ; Cyr, Denis ; Czuczy, Noemi ; D'Apolito, Oceania ; Davis, Tim ; de Sain-Van der Velden, Monique G. ; De Pecellin, Carmen lgado ; Di Gangi, Iole Maria ; Di Stefano, Cristina Maria ; Dotsikas, Yannis ; Downing, Melanie ; Downs, Stephen M. ; Dy, Bonifacio ; Dymerski, Mark ; Rueda, Inmaculada ; Elvers, Bert ; Eaton, Roger ; Eckerd, Barbara M. ; El Mougy, Fatma ; Eroh, Sarah ; Espada, Mercedes ; Evans, Catherine ; Fawbush, Sandy ; Fijolek, Kristel F. ; Fisher, Lawrence ; Franzson, Leifur ; Frazier, Dianne M. ; Garcia, Luciana R.C. ; Bermejo, Maria Sierra García-Valdecasas ; Gavrilov, Dimitar ; Gerace, Rosemarie ; Giordano, Giuseppe ; Irazabal, Yolanda González ; Greed, Lawrence C. ; Grier, Robert ; Grycki, Elyse ; Gu, Xuefan ; Gulamali-Majid, Fizza ; Hagar, Arthur F. ; Han, Lianshu ; Hannon, W. Harry ; Haslip, Christa ; Hassan, Fayza Abdelhamid ; He, Miao ; Hietala, Amy ; Himstedt, Leslie ; Hoffman, Gary L. ; Hoffman, William ; Hoggatt, Philis ; Hopkins, Patrick V. ; Hougaard, David M. ; Hughes, Kerie ; Hunt, Patricia R. ; Hwu, Wuh-Liang ; Hynes, June ; Ibarra-González, Isabel ; Ingham, Cindy A. ; Ivanova, Maria ; Jacox, Ward B. ; John, Catharine ; Johnson, John P. ; Jónsson, Jón j ; Karg, Eszter ; Kasper, David ; Klopper, Brenda ; Katakouzinos, Dimitris ; Khneisser, Issam ; Knoll, Detlef ; Kobayashi, Hirinori ; Koneski, Ronald ; Kožich, Viktor ; Kouapei, Rasoul ; Kohlmueller, Dirk ; Kremensky, Ivo ; la Marca, Giancarlo ; Lavochkin, Marcia ; Lee, Soo-Youn ; Lehotay, Denis C. ; Lemes, Aida ; Lepage, Joyce ; Lesko, Barbara ; Lewis, Barry ; Lim, Carol ; Linard, Sharon ; Lindner, Martin ; Lloyd-Puryear, Michele A. ; Lorey, Fred ; Loukas, Yannis L. ; Luedtke, Julie ; Maffitt, Neil ; Magee, J. Fergall ; Manning, Adrienne ; Manos, Shawn ; Marie, Sandrine ; Hadachi, Sônia Marchezi ; Marquardt, Gregg ; Martin, Stephen J. ; Matern, Dietrich ; Gibson, Stephanie K. Mayfield ; Mayne, Philip ; McCallister, Tonya D. ; McCann, Mark ; McClure, Julie ; McGill, James J. ; McKeever, Christine D. ; McNeilly, Barbara ; Morrissey, Mark A. ; Moutsatsou, Paraskevi ; Mulcahy, Eleanor A. ; Nikoloudis, Dimitris ; Norgaard-Pedersen, Bent ; Oglesbee, Devin ; Oltarzewski, Mariusz ; Ombrone, Daniela ; Ojodu, Jelili ; Papakonstantinou, Vagelis ; Reoyo, Sherly Pardo ; Park, Hyung-Doo ; Pasquali, Marzia ; Pasquini, Elisabetta ; Patel, Pallavi ; Pass, Kenneth A. ; Peterson, Colleen ; Pettersen, Rolf D. ; Pitt, James J. ; Poh, Sherry ; Pollak, Arnold ; Porter, Cory ; Poston, Philip A. ; Price, Ricky W. ; Queijo, Cecilia ; Quesada, Jonessy ; Randell, Edward ; Ranieri, Enzo ; Raymond, Kimiyo ; Reddic, John E. ; Reuben, Alejandra ; Ricciardi, Charla ; Rinaldo, Piero ; Rivera, Jeff D. ; Roberts, Alicia ; Rocha, Hugo ; Roche, Geraldine ; Greenberg, Cheryl Rochman ; Mellado, José María Egea ; Juan-Fita, María Jesús ; Ruiz, Consuelo ; Ruoppolo, Margherita ; Rutledge, S. Lane ; Ryu, Euijung ; Saban, Christine ; Sahai, Inderneel ; García-Blanco, Maria Isabel Salazar ; Santiago-Borrero, Pedro ; Schenone, Andrea ; Schoos, Roland ; Schweitzer, Barb ; Scott, Patricia ; Seashore, Margretta R. ; Seeterlin, Mary A. ; Sesser, David E. ; Sevier, Darrin W. ; Shone, Scott M. ; Sinclair, Graham ; Skrinska, Victor A. ; Stanley, Eleanor L. ; Strovel, Erin T. ; Jones, April L Studinski ; Sunny, Sherlykutty ; Takats, Zoltan ; Tanyalcin, Tijen ; Teofoli, Francesca ; Thompson, J. Robert ; Tomashitis, Kathy ; Domingos, Mouseline Torquado ; Torres, Jasmin ; Torres, Rosario ; Tortorelli, Silvia ; Turi, Sandor ; Turner, Kimberley ; Tzanakos, Nick ; Valiente, Alf G. ; Vallance, Hillary ; Vela-Amieva, Marcela ; Vilarinho, Laura ; von Döbeln, Ulrika ; Vincent, Marie-Francoise ; Vorster, B. Chris ; Watson, Michael S. ; Webster, Dianne ; Weiss, Sheila ; Wilcken, Bridget ; Wiley, Veronica ; Williams, Sharon K. ; Willis, Sharon A. ; Woontner, Michael ; Wright, Katherine ; Yahyaoui, Raquel ; Yamaguchi, Seiji ; Yssel, Melissa ; Zakowicz, Wendy M.
In Genetics in Medicine March 2011 13(3):230-254
Book
In Avery. Enfermedades del recién nacido Edition: Eleventh Edition. 2025:199-215
Academic Journal
In Genetics in Medicine December 2010 12 Supplement 12:S220-S227
Academic Journal
Yusupov, Roman ; Finegold, David N. ; Naylor, Edwin W. ; Sahai, Inderneel ; Waisbren, Susan ; Levy, Harvey L.
In Molecular Genetics and Metabolism 2010 101(1):33-39
Book
In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics Edition: Seventh Edition. 2022:57-86
Academic Journal
Bergmann, Anke K. ; Sahai, Inderneel ; Falcone, Jill F. ; Fleming, Judy ; Bagg, Adam ; Borgna-Pignati, Caterina ; Casey, Robin ; Fabris, Luca ; Hexner, Elizabeth ; Mathews, Lulu ; Ribeiro, Maria Leticia ; Wierenga, Klaas J. ; Neufeld, Ellis J.
In The Journal of Pediatrics 2009 155(6):888-892
Academic Journal
Alcantara, Jonanlis Ramirez; Grant, Natalie R.; Sethuram, Swathi; Nagy, Amanda; Becker, Catherine; Sahai, Inderneel; Stanley, Takara; Halper, Alyssa; Eichler, Florian S.
Journal of Clinical Endocrinology & Metabolism. November 2023, Vol. 108 Issue 11, pe1306, 10 p.
Academic Journal
Gaier, Eric D.; Sahai, Inderneel; Wiggs, Janey L.; McGeeney, Brian; Hoffman, Jodi; Peeler, Crandall E.
Book
In Avery's Diseases of the Newborn Edition: Tenth Edition. 2018:332-346
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[AR] Sahai, Inderneel
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