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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy Orbach, Rotem; Donkervoort, Sandra; Hedberg-Oldfors, Carola; Baranello, Giovanni; Saade, Dimah; D'Souza, Precilla; Patel, Ruchee; Michael, Eva; Foley, A. Reghan; Bharucha-Goebel, Diana; Haugland, S. Jin; McAnally, Meghan; Hamid, Omer Abdul; Chao, Katherine; Macnamara, Ellen F.; Beggs, Alan H.; Sarkozy, Anna; Mueller, Juliane; Moore, Steven A.; Finkel, Richard S.; Tifft, Cynthia J.; Muntoni, Francesco; Oldfors, Anders; Bonnemann, Carsten G. Share Save
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Conserved neutrophil degranulation transcripts in HIV-TB coinfected children across East and Southern Africa Katagirya, Eric; Mlotshwa, Busisiwe; Kyobe, Samuel; Mwesigwa, Savannah; Retshabile, Gaone; Williams, Lesedi; Amujal, Marion; Mukisa, John; Mboowa, Gerald; Kateete, David P.; Wayengera, Misaki; Mpoloka, Sununguko Wata; Mirembe, Angella N.; Kasvosve, Ishmael; Morapedi, Koketso; Dlamini, Makhosazana; Nsangi, Betty; Kisitu, Grace P.; Kekitiinwa, Adeodata R.; Anabwani, Gabriel; Joloba, Moses L.; Wampande, Eddie Mujjwiga; Kiragga, Dithan; Anabwani-Richter, Florence; Brown, Chester W.; Mardon, Graeme; Hanchard, Neil A.; Matshaba, Mogomotsi; Tsimako- Johnstone, Masego; Mathuba, Keofentse Share Save
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AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial Lewis, Connor J.; D'souza, Precilla; Johnston, Jean M.; Acosta, Maria T.; Farmer, Cristan; Baker, Eva H.; Crowell, Anna; Mojica, Yoliann; Ashraf, Sumaiya; Joseph, Lisa; Vezina, Gilbert; Quezado, Zenaide; Yousef, Muhammad H.; Vardar, Zeynep; Shazeeb, Mohammed Salman; Corti, Manuela; Blackwood, Meghan; Coleman, Kirsten; Batista, Rita; Thurm, Audrey; De Boever, Erika; Gahl, William A.; Byrne, Barry J.; Flotte, Terence R.; Jiang, Xuntian; Gross, Amanda L.; Keeler, Allison M.; Gray-Edwards, Heather; Martin, Douglas R.; Sena-Esteves, Miguel; Tifft, Cynthia J. Share Save
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Meeting Abstracts from the XVI International Collaboration on Rare Diseases and Orphan Drugs (ICORD): Incentivizing Science and a Comprehensive Program for Rare Diseases Roldan, Emilio J. A.; Stefanov, Rumen; Tifft, Cynthia J.; Evelson, Pablo Andres; Posada, Manuel; Lucangioli, Silvia; Taruscio, Domenica; Berg, Gabriela; Demianczuk, Patricia Sonia; Mantovani, Alberto; Del Toro, Mireia; Calogero, Micaela Tamar; Bermejo-Sanchez, Eva; Raices, Bianca; Carta, Claudio; Estebenet, Fabiana; Muthyala, Ramaiah; Barrera, Luis Alejandro; Pacciarini, Guadalupe Velia Share Save
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Putting the L in ELSI: legal methods for bioethics research Prince, Anya E. R.; Berkman, Benjamin; Ford, Donald; Fox, Dov; Guerrini, Christi; Koopmann, Amy; Ram, Natalie; Roberts, Jessica L.; Spector-Bagdady, Kayte; Suter, Sonia Share Save
Pathways, outputs and impact of NIH-supported bioinformatics and genomics graduate trainees in Africa Jjingo, Daudi; Walakira, Andrew; Hashim, Suhaila; Cheickna, Cisse; Galiwango, Ronald; Kibet, Caleb; Kivunike, Florence N.; Mboowa, Gerald; Kakembo, Fredrick Elishama; Ayodele, Babajide; Entfellner, Jean-Baka Domelevo; De Villiers, Santie; Wambui, Karen; Fatumo, Segun; Chikowore, Tinashe; Mukisa, John; Ssekagiri, Alfred; Bbosa, Nicholas; Mulindwa, Julius; Kyobe, Samuel; Nsubuga, Mike; Kebirungi, Grace; Katagirya, Eric; Mwesigwa, Savannah; Lujumba, Ibra; Kamulegeya, Rogers; Kirimunda, Samuel; Kanyerezi, Stephen; Kiyaga, Shahiid; Sserwadda, Ivan; Kiberu, Davis; Bagaya, Bernard S.; Okwir, Julius; Nabisubi, Patricia; Nabakooza, Grace; Atwine, Mugume Twinamatsiko; Sserunjogi, Ricard; Julius, Rolanda; Quinones, Mariam; McCarthy, Meghan; Cruz, Phillip; Noble, Karlynn; Whalen, Christopher J.; Hurt, Darrell; Giovanni, Maria Y.; Tartakovsky, Michael; Ssemwanga, Deogratius; Kitayimbwa, John M.; Reynolds, Steven J.; Whalen, Christopher C.; Kambugu, Andrew; Hanchard, Neil A.; Jian, Li; Amoako-Yirenkyi, Peter; Mardon, Graeme; Jordan, I. King; Salifu, Samson Pandam; Wele, Mamadou; Adebiyi, Ezekiel; Shaffer, Jeffrey G.; Doumbia, Seydou; Kateete, David Patrick; Skelton, Michelle; Mulder, Nicola; Kayondo, Jonathan K.; Masiga, Daniel Share Save
Mediation of Polygenic Asthma Risk Through Gene Expression Natarajan, Rakesh; Szczesny, Brooke; Kanchan, Kanika; Esquinca, Erika; Boorgula, Meher Preethi; Chavan, Sameer; Campbell, Monica; Lorizio, Wendy; Doumatey, Ayo P.; Cruz, Alvaro A.; Watson, Harold; Naureckas, Edward T.; Giles, B. Louise; Arinola, Ganiyu; Sogaolu, Olumide; Falade, Adegoke G.; Hansel, Nadia N.; Olopade, Christopher O.; Rotimi, Charles N.; Landis, R. Clive; Figueiredo, Camila A.; Kenny, Eimear E.; Ruczinski, Ingo; Liu, Andrew H.; Ober, Carole; Taub, Margaret A.; Johnson, Randi K.; Barnes, Kathleen C.; Wojcik, Genevieve L.; Mathias, Rasika A. Share Save
Acute phase reactants as predictors of chronic kidney disease incidence in Africans: the population-based prospective RODAM cohort study Mungamba, Muhulo Muhau; Chilunga, Felix. P.; Van Der Linden, Eva L.; Buene, Erik; Hayfron-Benjamin, Charles F.; Meeks, Karlijn A. C.; Darko, Samuel N.; Owusu-Dabo, Ellis; Vogt, Liffert; Van Den Born, Bert-Jan; Chungag, Benedicta N.; Agyemang, Charles Share Save
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Exploring the liver kidney axis in the Ghanaian population: the RODAM-Prospective study Mungamba, Muhulo Muhau; Chilunga, Felix. P.; van der Linden, Eva L.; Beune, Erik; Henneman, Peter; Hayfron-Benjamin, Charles F.; Meeks, Karlijn A. C.; Darko, Samuel N.; Twumasi-Ankrah, Sampson; Owusu-Dabo, Ellis; Holleboom, Adriaan G.; Vogt, Liffert; van den Born, Bert-Jan; Chungag, Benedicta N.; Agyemang, Charles Share Save
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CBFβ-SMMHC-driven leukemogenesis requires enhanced RUNX1-DNA binding affinity in mice Zhen, Tao; Cao, Yaqiang; Dou, Tongyi; Chen, Yun; Lopez, Guadalupe; Menezes, Ana catarina; Wu, Xufeng; Hammer, John A.; Cheng, Jun; Garrett, Lisa; Anderson, Stacie; Kirby, Martha; Wincovitch, Stephen; Sisay, Bayu; Elkahloun, Abdel G.; Wu, Di; Castilla, Lucio H.; Yang, Wei; Jiang, Jiansen; Zhao, Keji; Liu, P. Paul Share Save
Growth Standards for Children With Smith-Magenis Syndrome (SMS) Hoover-Fong, Julie; McGready, John; Fleming, Leah; Schulze, Kerry; Duncan, Folami; Leonard, Alexis; Boucard, Marie Christine de Blois; Moretti-Ferreira, Danilo; Gropman, Andrea L.; Introne, Wendy J.; Smith, Ann C. M. Share Save
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