Resultados da pesquisa - Novacic, Danica

SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients Por Ray, Evan C., Boyd-Shiwarski, Cary R., Liu, Pengfei, Novacic, Danica, Cassiman, David

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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B Por Li, Howard J., Groden, Catherine, Hoenig, Melanie P., Ray, Evan C., Ferreira, Carlos R., Gahl, Willam, Novacic, Danica

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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features Por Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping, Wang, Xia

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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder Por Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.

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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease Por Beck, David B., Ferrada, Marcela A., Sikora, Keith A., Ombrello, Amanda K., Collins, Jason C., Pei, Wuhong, Balanda, Nicholas, Ross, Daron L., Cardona, Daniela Ospina, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M., Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W., Hourigan, Christopher S., Tsai, Wanxia L., Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J., Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S., Nehrebecky, Michele, Jones, Anne, Laird, Ryan S., Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V., Lee, Chyi-Chia R., Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J., Dulau-Florea, Alina, Malicdan, May C.V., Novacic, Danica, Colbert, Robert A., Kaplan, Mariana J., Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J., Abu-Asab, Mones, Solomon, Benjamin D., Retterer, Kyle, Gahl, William A., Burgess, Shawn M., Aksentijevich, Ivona, Young, Neal S., Calvo, Katherine R., Werner, Achim, Kastner, Daniel L., Grayson, Peter C.

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