학술논문
'학술논문'
에서 검색결과 142건 | 목록
20~30
Academic Journal
Zhao, Piming; Liu, Isaac; Hodgin, Jeffrey; Benke, Peter; Selva, Jeremy; Torta, Federico; Wenk, Markus; Endrizzi, James; West, Olivia; Ou, Weixing; Tang, Emily; Goh, Denise; Tay, Stacey; Yap, Hui-Kim; Loh, Alwin; Weaver, Nicole; Sullivan, Bonnie; Larson, Austin; Cooper, Megan; Alhasan, Khalid; Alangari, Abdullah; Salim, Suha; Gumus, Evren; Chen, Karin; Zenker, Martin; Hildebrandt, Friedhelm; Saba, Julie
Journal of Inherited Metabolic Disease. 43(5)
Albee, May V.; Angkustsiri, Kathleen; Anoshiravani, Arash; Ansel, David Alan; Anthony, Tanni L.; Armstrong-Brine, Melissa; Arruda, Jenna; Rosenbaum Asarnow, Joan; Augustyn, Marilyn; Baker II, Peter; Bandini, Linda G.; Barbaresi, William J.; Barnett, W. Steven; Bassingthwaite, Brenda; Bassitt, Brittany S.; Batt, Courtney E.; Baum, Rebecca A.; Baumer, Fiona M.; Becker, Ronald E.; Beckwith, Anna Malia; Beers, Nathaniel S.; Bellinger, David C.; Bennett, Amanda E.; Blankenship, Kelly; Blum, Nathan J.; Boog, Kristen; Boynton-Jarrett, Renée; Breitborde, Nicholas J.K.; Brennan-Krohn, Zoe; Brochier, Annelise; Brooks, Shalonda; Brown, Mariah; Brown, Michelle R.; Brunt, Sophie; Burkhart, Kimberly; Bush, Nicole R.; Butter, Eric M.; Buyers, Eliza; Canfield, Caitlin F.; Carpenter, Laura Arnstein; Cavanaugh, Kaitlyn; Cawkwell, Philip B.; Chen, Diane; Chesley, Gayle; Clark, Marie A.; Coan, Elizabeth; Cohen, Shereen J.; Coleman, Cara; Corbett, Sean T.; Cormier II, DePorres; Coyne, Claire A.; Crouse, Catherine; Curtin, Carol; Davis, Beth Ellen; Davis, Katie; Davis, Shanlee; Demaria, Thomas; Dempsey, Allison G.; Devine, Katie A.; DeWitt, Mary Beth; Diab, Liliane; Dietz, Irene Cihon; Dubow, Elizabeth; Dubner, Sarah E.; Duby, John C.; Duis, Jessica; Elansary, Mei; Elias, Ellen Roy; Enriquez, Janice; Enzenauer, Robert W.; Erisman, Shannon; Eschbach, Krista; Klein, Jordan Ezell; Fehr, Karla K.; Feldman, Heidi M.; Fishbein, Lauren B.; Fogler, Jason M.; Frank, Deborah A.; Friedman, Sandra L.; Friedman, Sarah L.; Fristad, Mary A.; Gaab, Nadine; Gilgoff, Rachel Lee; Gonzalez, R. Emily; Good, Julie; Gray, Susan Hayden; Greathouse, A. Dawn; Hagerman, Randi; Hall, Eleanore M.; Hall, Howard; Halpern-Felsher, Bonnie; Hamilton, Sarah A.; Hansen, Robin L.; Hassink, Sandra G.; Hauptman, Marissa; Hawes, Katheleen; Hazen, Rebecca A.; Hergenroeder, Albert; Herrera, Jenniffer; Hickey, Francis; High, Pamela; Hocking, Matthew C.; Hostutler, Cody A.; Howell, Susan; Huffman, Lynne C.; Hughes-Scalise, Abby; Hyman, Susan L.; Ingram, Kida; Iyengar, Sandhyaa; Jackel, Carissa R.; Jalalizadeh, Bayan; Jimenez, Manuel E.; Julian, Megan M.; Kahn, Colleen; Keder, Robert D.; Keeshin, Brooks; Kelly, M. Kathleen; Kelminson, Karen; Khetani, Mary A.; Kiley, Bridget; Kim, Judy Lu; Kinser, Patricia A.; Kirkwood, Michael W.; Knight, John R.; Knotowicz, Holly; Kochhar, Aaina; Koshy, Anson J.; Kral, Mary C.; Krebs, Nancy F.; Krueger, Casey E.; Kruger, Jeremy; Kupzyk, Sara; Kwok, Gary; Landrigan, Philip J.; Larson, Austin; Lazaro, Adrienne; Ledesma, Michele; Leff, Stephen S.; Leikauf, John E.; O'Connor Leppert, Mary L.; Leraas, Bethany; Loe, Irene M.; Lumeng, Julie C.; Macias, Michelle M.; Magnusson, Dawn M.; Malik, Fatima; Mancini, Kathryn; Mann, Kilby; Marquardt, Melissa; Marwaha, Raman; Mazurek, Micah; McDaniel, Susan H.; McDonald, Eric; McGuinn, Laura Joan; Meeks, Naomi J.L.; Mehlenbeck, Robyn; Mendelsohn, Alan L.; Messick, Cheryl; Mink, Jonathan W.; Mintz, Laura J.; Mizner, Susan; Monteiro, Sonia A.; Mood, Deborah; Moore, Jessica; Moyer, Sara W.; Mueller, Claudia M.; Mulé, Christina; Munzer, Tiffany; Murphy, Nancy; Murray, Caitlin B.; Murray, Marsheena; Myers, Brittany R.; Nadler, Cy; Needlman, Robert; Okamoto, Jeffrey; Oleszek, Joyce; O'Rourke, Sara; Owens, Judith A.; Palat, Padmini; Palermo, Tonya M.; Parris, Craig J.; Patel, Jessica; Pereira-Smith, Silvia; Perrin, Hannah; Pesch, Megan Honor; Peterson, Jaime W.; Phelps, Randall; Pickler, Laura; Powell, Aaron; Prock, Lisa; Puente, Michael A.; Pugatch, Marianne; Rabot, Jamie T.; Ramirez, Lisa; Rappaport, Leonard A.; Rathbun, Jennifer M.; Ratliff-Schaub, Karen; Reggiani, Shelly; Reilly, Marie; Reitmeyer, Dillon; Restrepo, Bibiana; Vazquez, Luis A. Rivas; Robins, Paul M.; Roby, Erin; Roizen, Nancy J.; Ros-DeMarize, Rosmary; Rouch, Erica Fornaris; Rusnak, Suzanne Cushwa; Sajwani, Afiya; Salisbury, Amy L.; Sanders, Benjamin W.; Sandesara, Ishani; Santucci, Kourtney; Scholnick, Ellin K.; Schonfeld, David J.; Schonwald, Alison; Schwartz, Justin Charles; Schwarz, Brittany L.; Scott-Mordhorst, Tina; Seeley, Kylie M.L.; Shabason, Emily K.; Shaffer, Laura A.; Shahidullah, Jeffrey D.; Shelkowitz, Emily; Shepard, Jaclyn A.; Simon, Kevin M.; Slaymaker, Kristen; Smith, Peter J.; Sourkes, Barbara; Speer, Leslie; Spelbrink, Emily M.; Spinks-Franklin, Adiaha; Spitalnik, Deborah M.; Stager, Margaret; Stancin, Terry; Stanger, Meg; Stearns, Walter H.; Stillwell, Terri; Takamatsu, Stephanie K.; Tartaglia, Nicole; Thompson, Talia; Tlustos, Sarah J.; Tridas, Eric; Trojanowski, Paige J.; Troy, Elizabeth; Tudor, Megan E.; Valenzuela-Araujo, Doris; Scoyoc, Amanda Van; Vanderbilt, Douglas L.; Simpson, Jessica VanOrmer; Voigt, Robert G.; Waanders, Christine; Wallis, Kate E.; Weissman, Laura; Weitzman, Carol; Wigby, Kristen; Winder-Patel, Breanna M.; Wissow, Larry; Wright, Kara K.; Yang, Michele; Yarnell Bonino, Angela; Yarus, Mary; Yeh, Ann Ming; Yilanli, Musa; Zinner, Samuel H.; Zorrilla, Marcia; Zuckerman, Barry; Zuckerman, Katharine E.; Zullo, Lucas
In Developmental-Behavioral Pediatrics Edition: Fifth Edition. 2023:v-xv
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Academic Journal
Nicoli, Elena-Raluca; Weston, Mary; Hackbarth, Mary; Becerril, Alissa; Larson, Austin; Zein, Wadih; Baker, Peter; Burke, John; Dorward, Heidi; Davids, Mariska; Huang, Yan; Adams, David; Zerfas, Patricia; Chen, Dong; Markello, Thomas; Toro, Camilo; Wood, Tim; Elliott, Gene; Vu, Mylinh; Zheng, Wei; Garrett, Lisa; Tifft, Cynthia; Gahl, William; Day-Salvatore, Debra; Mindell, Joseph; Malicdan, May
American Journal of Human Genetics. 104(6)
Academic Journal
Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar
Human Molecular Genetics; Oct2022, Vol. 31 Issue 19, p3231-3244, 14p
Academic Journal
Steiner, Robert D.; Debarber, Andrea; Larson, Austin; Blanchard, Bobbi; Laurie, Shawn; Odedara, Neel; Rosengrant, Hollisa; Dutta, Rana
Academic Journal
Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur; Faivre, Laurence; Chantot‐Bastaraud, Sandra; Beneteau, Claire; Denis‐Musquer, Marie; Turnpenny, Peter D.; Coutton, Charles; Vieville, Gaëlle; Thevenon, Julien; Larson, Austin; Petit, Florence; Boudry, Elise; Smol, Thomas; Delobel, Bruno; Duban‐Bedu, Bénédicte; Fallerini, Chiara; Mari, Francesca; Lo Rizzo, Caterina
Academic Journal
Gracie, Sara; Sengupta, Nivedita; Ferreira, Carlos; Pemberton, Joshua; Anderson, Ilse; Wang, Xin; Rhodes, Lindsay; Brown, Kathleen; Balla, Tamas; Larson, Austin
American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1739-1745, 7p
Academic Journal
DeBarber, Andrea; Kisanuki, Yaz; Nobrega, Paulo; Himes, Ryan; Jayadev, Suman; Bernat, John; Prakash, Vikram; Gibson, James; Larson, Austin; Sgobbi, Paulo; Murphy, Edward; Fedor, Brian; Foo, Cheryl Wong Po; Dutta, Rana; Imperiale, Michael; Garner, Will; Vig, Pamela; Duell, P. Barton; Perez, Sarah; Ramdhani, Ritesh
Periodical
Moreno Traspas, Ricardo; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bézieau, Stéphane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; Lai, Poh San; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Wu, Bin; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrão, Anabela Natália; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno
Nature Genetics; August 2022, Vol. 54 Issue: 8 p1214-1226, 13p
Academic Journal
Ligezka, Anna N.; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M.; Reid, Joel M.; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek‐Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C.; Ghesquière, Bart; Witters, Peter
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