학술논문
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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)
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
Vilboux, Thierry; Gahl, William; Malicdan, May; Gunay-Aygun, Meral; Stephen, Joshi; Kuptanon, Chulaluck; Sinclair, Courtney; Yildirimli, Deniz; Maynard, Dawn; Bryant, Joy; Fischer, Roxanne; Huizing, Marjan; Mian, Luhe; Vemulapalli, Meghana; Mullikin, James
Academic Journal
Vilboux, Thierry; Gahl, William; Berger, Seth; Ciccone, Carla; Simon, Karen; Malicdan, May; Billington, Charles; Fischer, Roxanne; Huizing, Marjan; Introne, Wendy; Smith, Ann; Gropman, Andrea; Blancato, Jan; Mullikin, James
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.; Cogan, Joy; Bernstein, Jonathan A.; Adams, David R.; McCray, Alexa T.; Shashi, Vandana; Undiagnosed Dis Network
Academic Journal
May-Simera, Helen Louise; Qin Wan; Jha, Balendu Shekhar; Hartford, Juliet; Khristov, Vladimir; Dejene, Roba; Chang, Justin; Patnaik, Sarita; Quanlong Lu; Banerjee, Poulomi; Silver, Jason; Insinna-Kettenhofen, Christine; Patel, Dishita; Lotfi, Mostafa; Malicdan, May; Hotaling, Nathan; Maminishkis, Arvydas; Sridharan, Rupa; Brooks, Brian; Kiyoharu Miyagishima
Cell Reports; 1/2/2018, Vol. 22 Issue 1, p189-205, 17p
Periodical
Kane, Megan; Davids, Mariska; Bond, Michelle; Adams, Christopher; Grout, Megan; Phelps, Ian; O’Day, Diana; Dempsey, Jennifer; Li, Xeuli; Golas, Gretchen; Vezina, Gilbert; Gunay-Aygun, Meral; Hanover, John; Doherty, Dan; He, Miao; Malicdan, May; Gahl, William; Boerkoel, Cornelius
Cilia; December 2017, Vol. 6 Issue: 1 p1-18, 18p
Academic Journal
Academic Journal
Gochuico, Bernadette; Wang, Jennifer; Smith, Lily; Abdalla, Jasmina; Zuo, Meixing; Franklin, Tesiya; Abudi, Shachar; Cinar, Resat; Malicdan, May; Han, Chen
Academic Journal
Tambe, Mitali; Ng, Bobby; Shimada, Shino; Wolfe, Lynne; Adams, David; Gahl, William; Malicdan, May; Freeze, Hudson
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[AR] Malicdan, May
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