نتائج البحث - "Christensen, Katherine"

المصدر: Manole , A , Efthymiou , S , O'Connor , E , Mendes , M I , Jennings , M , Maroofian , R , Davagnanam , I , Mankad , K , Lopez , M R , Salpietro , V , Harripaul , R , Badalato , L , Walia , J , Francklyn , C S , Athanasiou-Fragkouli , A , Sullivan , R , Desai , S , Baranano , K , Zafar , F , Rana , N , Ilyas , M , Horga , A , Kara , M , Mattioli , F , ....

الاتاحة: https://research.vumc.nl/en/publications/c3a406b1-895d-4557-92a7-100a86fd9ac9
https://doi.org/10.1016/j.ajhg.2020.06.016
http://www.scopus.com/inward/record.url?scp=85088934445&partnerID=8YFLogxK

View record in BASE

14

Academic Journal

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

المؤلفون: Castilla-Vallmanya, Laura, Selmer, Kaja K, Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R F, van Essen, Antonie J, Oufadem, Myriam, Vigeland, Magnus D, Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W, Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K, Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M, Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara L., Beaver, Erin M., Heeley, Jennifer M., Briere, Lauren C., High, Frances A., Sweetser, David A, Walker, Melissa A., Keegan, Catherine E., Jayaker, Paul, Shinawi, Marwan, Kerstjens, Mieke, Earl, Dawn L, Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie T., Karlowicz , Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M, Slavotinek, Anne, Barbouth, Deborah, Morel Swols, Dayna, Parisot, Mélanie, Bole-Feysot, Christine, Nitschke, Patrick, Pingault , Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells , Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti , Roser, Gordon, Christopher T.

المصدر: Undiagnosed Diseases Network, Care4Rare Canada Consortium , Castilla-Vallmanya , L , Selmer , K K , Dimartino , C , Rabionet , R , Blanco-Sánchez , B , Yang , S , Reijnders , M R F , van Essen , A J , Oufadem , M , Vigeland , M D , Stadheim , B , Houge , G , Cox , H , Kingston , H , Clayton-Smith , J , Innis , J W , Iascone , M , Cereda , A , Gabbiadini , S , Chung , W K , Sanders , V , ....

مصطلحات موضوعية: TRAF7, craniofacial development, intellectual disability, blepharophimosis, patent ductus arteriosus, NF-KAPPA-B, GENOMIC ANALYSIS, MUTATIONS, POLYUBIQUITINATION, MENINGIOMAS, ACTIVATION, PROTEIN, TARGET, LEADS, AKT1