未登录 分享 收藏
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework 基于ClinGen注释框架的证据支持性骨骼疾病相关基因分类 Webb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R. 分享 收藏
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases RNA测序为先前未解决的罕见病病例提供了功能见解和诊断分辨率。 Lewis, Robert G.; O'shea, John M.; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L.; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J.; Boyden, Steven E.; Ward, Alistair; Baldwin, Erin E.; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C.; Bleyl, Steven B.; Butterfield, Russell J.; Taliercio, Vanina; Botto, Lorenzo D.; Mao, Rong; Bayrak-Toydemir, Pinar 分享 收藏
Maternal Myo-Inositol Intake and Congenital Heart Defects in Offspring: A Population-Based Case-Control Study 母体肌醇摄入与后代先天性心脏病：一项基于人群的病例对照研究 Cen, Ruiqi; Su, L. Joseph; Ying, Jun; Orloff, Mohammed S.; Bolin, Elijah H.; Lou, Xiangyang; Almli, Lynn M.; Botto, Lorenzo D.; Browne, Marilyn L.; Finnell, Richard H.; Jenkins, Mary M.; Nestoridi, Eirini; Olshan, Andrew F.; Romitti, Paul A.; Shaw, Gary M.; Nembhard, Wendy N. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
High Incidence of Adverse Neonatal Outcomes of Pregnancy in Women with Congenital Heart Disease 先天性心脏病女性妊娠的不良新生儿结局高发率 Edwards, Lindsay; Goldstein, Sarah; Nilles, Ester; Chiswell, Karen; DOttavio, Alfred; Reeder, Matthew; Glidewell, Jill; Wood, Kathleen; Sethi, Neeta; Raskind-Hood, Cheryl; Book, Wendy; Feldkamp, Marcia; Li, Jennifer; Botto, Lorenzo 分享 收藏
分享 收藏
Cardiovascular disease risk factors in congenital heart disease survivors are associated with heart failure Landstrom, Andrew P.; Spears, Tracy; D'Ottavio, Alfred; Chiswell, Karen; Sommerhalter, Kristin; Soim, Aida; Farr, Sherry L.; Crume, Tessa; Book, Wendy M.; Whitehead, Kevin; Botto, Lorenzo D.; Li, Jennifer S.; Hsu, Daphne T. 分享 收藏
Racial and Ethnic Disparities in Health Care Usage and Death by Neighborhood Poverty Among Individuals With Congenital Heart Defects, 4 US Surveillance Sites, 2011 to 2013 Raskind-Hood, Cheryl L.; Kancherla, Vijaya; Ivey, Lindsey C.; Rodriguez III, Fred H.; Sullivan, Anaclare M.; Lui, George K.; Botto, Lorenzo; Feldkamp, Marcia; Li, Jennifer S.; D'Ottavio, Alfred; Farr, Sherry L.; Glidewell, Jill; Book, Wendy M. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013 Lui, George K.; Sommerhalter, Kristin; Xi, Yizhao; Botto, Lorenzo D.; Crume, Tessa; Farr, Sherry; Feldkamp, Marcia L.; Glidewell, Jill; Hsu, Daphne; Khanna, Amber; Krikov, Sergey; Li, Jennifer; Raskind-Hood, Cheryl; Sarno, Lauren; Van Zutphen, Alissa R.; Zaidi, Ali; Soim, Aida; Book, Wendy M. 分享 收藏
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway Sokoya, Tolulope; Parolek, Jan; Foged, Mads Moller; Danylchuk, Dmytro, I; Bozan, Manuel; Sarkar, Bingshati; Hilderink, Angelika; Philippi, Michael; Botto, Lorenzo D.; Terhal, Paulien A.; Makitie, Outi; Piehler, Jacob; Kim, Yeongho; Burd, Christopher G.; Klymchenko, Andrey S.; Maeda, Kenji; Holthuis, Joost C. M. 分享 收藏
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy ATP6V0C变体损害v-atpase功能，导致通常与癫痫相关的神经发育障碍 Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew 分享 收藏
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy Helman, Guy; Zarekiani, Parand; Tromp, Samantha A. M.; Andrews, Ashley; Botto, Lorenzo D.; Bonkowsky, Joshua L.; Chassevent, Anna; Giorgio, Elisa; Pippucci, Tommaso; Wei, Shen; Smith-Hicks, Constance; Vaula, Giovanna; Willemsen, Michel A. A. P.; Schimmel, Mareike; Vollert, Kurt; Shimizu, Fumitaka; Kanda, Takashi; Lynch, Matthew; Roscioli, Tony; Taft, Ryan J.; Simons, Cas; Bugiani, Marianna; Kuijpers, Taco W.; van der Knaap, Marjo S. 分享 收藏
How Well Do ICD-9-CM Codes Predict True Congenital Heart Defects? A Centers for Disease Control and Prevention-Based Multisite Validation Project Rodriguez, Fred H., III; Raskind-Hood, Cheryl L.; Hoffman, Trenton; Farr, Sherry L.; Glidewell, Jill; Li, Jennifer S.; D'Ottavio, Alfred; Botto, Lorenzo; Reeder, Matthew R.; Hsu, Daphne; Lui, George K.; Sullivan, Anaclare M.; Book, Wendy M. 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
