학술논문
'학술논문'
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1~10
Academic Journal
Curic, Ela; Ewans, Lisa; Pysar, Ryan; Taylan, Fulya; Botto, Lorenzo D.; Nordgren, Ann; Gahl, William; Palmer, Elizabeth Emma
Academic Journal
Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V.; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pinto e Vairo, Filippo; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; Hollander, Nicolette den; Hoffer, Mariëtte J.V.; Reijnders, Margot R.F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G.B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, Jozef; Jolly, Lachlan A.
In Biological Psychiatry 15 January 2020 87(2):100-112
Academic Journal
In Molecular Genetics and Metabolism March 2023 138(3)
Academic Journal
Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B; Hom, Jason; Sampson, Jacinda; Wheeler, Matthew T; Undiagnosed Diseases Network; Cogan, Joy; Bernstein, Jonathan A; Adams, David R; McCray, Alexa T; Shashi, Vandana
Genetics in medicine : official journal of the American College of Medical Genetics. 23(2)
Academic Journal
Ravell, Juan C; Matsuda-Lennikov, Mami; Chauvin, Samuel D; Zou, Juan; Biancalana, Matthew; Deeb, Sally J; Price, Susan; Su, Helen C; Notarangelo, Giulia; Jiang, Ping; Morawski, Aaron; Kanellopoulou, Chrysi; Binder, Kyle; Mukherjee, Ratnadeep; Anibal, James T; Sellers, Brian; Zheng, Lixin; He, Tingyan; George, Alex B; Pittaluga, Stefania; Powers, Astin; Kleiner, David E; Kapuria, Devika; Ghany, Marc; Hunsberger, Sally; Cohen, Jeffrey I; Uzel, Gulbu; Bergerson, Jenna; Wolfe, Lynne; Toro, Camilo; Gahl, William; Folio, Les R; Matthews, Helen; Angelus, Pam; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia M; Franco, Jose Luis; Orrego-Arango, Julio; Gutiérrez-Hincapié, Sebastian; Patel, Niraj Chandrakant; Raymond, Kimiyo; Patiroglu, Turkan; Unal, Ekrem; Karakukcu, Musa; Day, Alexandre Gr; Mehta, Pankaj; Masutani, Evan; De Ravin, Suk S; Malech, Harry L; Altan-Bonnet, Grégoire; Rao, V Koneti; Mann, Matthias; Lenardo, Michael J
Journal of Clinical Investigation. 130(1)
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
Hussain, Nadeem ; Quezado, Martha; Huizing, Marjan; Geho, David; White, James G.; Gahl, William; Mannon, Peter
In Clinical Gastroenterology and Hepatology 2006 4(1):73-80
Academic Journal
Otero, Maria G; Tiongson, Emmanuelle; Diaz, Frank; Haude, Katrina; Panzer, Karin; Collier, Ashley; Kim, Jaemin; Adams, David; Tifft, Cynthia J; Cui, Hong; Zamora, Francisca Millian; Au, Margaret G; Graham, John M; Buckley, David J; Lewis, Richard; Toro, Camilo; Bai, Renkui; Turner, Lesley; Mathews, Katherine D; Gahl, William; Pierson, Tyler Mark
Annals of Clinical and Translational Neurology. 6(1)
Academic Journal
Peretz, Ryan H.; Zein, Wadih M.; Hufnagel, Robert B.; Ku, Christine; Godfrey, Rena; Wolfe, Lynne; Adams, David; Gahl, William; Toro, Camilo
American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p624-629, 6p
Academic Journal
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M. Celeste; de la Cruz, Xavier; Padilla, Natalia; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christele; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalle; Andrews, Marisa; Baldridge, Dustin; Constantino, John; Rauch, Anita; van Haeingen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M., Jr.; Au, Margaret; Falvre, Laurence; Shen, Wel; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Mackllin-Mantla, Sarah; Meerschaut, Ilse; Callewaert, Bert; Rels, Andre; Zweler, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pler, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jann; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denomme-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Ruben Perez; del Pozo, Jaime Sanchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Ani; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Then, Frederic Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sebastien; Cueto-Gonzalez, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Oyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A. F.
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