المؤلفون: Dsouza, Nikita, Cottrell, Catherine, Davies, Olivia, Tollefson, Megha, Frieden, Ilona, Basel, Donald, Urrutia, Raul, Drolet, Beth, Zimmermann, Michael

المصدر: Life. 14(3)

مصطلحات موضوعية: PI3K, PROS, genomic data interpretation, genomics, overgrowth, precision medicine, undergrowth

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/21v1d0ps

المؤلفون: Davies, Olivia, Ng, Ashley, Tran, Jennifer, Blumenthal, Shoshana, Arkin, Lisa, Nopper, Amy, Cottrell, Catherine, Garzon, Maria, Siegel, Dawn, Frieden, Ilona, Drolet, Beth

المصدر: Pediatric Dermatology. 39(6)

مصطلحات موضوعية: GNA11, GNAQ, capillary malformation, hypertension, Humans, Vascular Malformations, Hypertension, Extremities, GTP-Binding Protein alpha Subunits, Gq-G11, GTP-Binding Protein alpha Subunits

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6gh232bn

المؤلفون: Mayoh, Chelsea^{Aff1, Aff2, Aff3}, Gifford, Andrew J.^{Aff1, Aff2, Aff4}, Terry, Rachael^{Aff1, Aff2}, Lau, Loretta M. S.^{Aff1, Aff2, Aff5}, Wong, Marie^{Aff1, Aff2}, Rao, Padmashree, Shai-Hee, Tyler, Saletta, Federica, Khuong-Quang, Dong-Anh^{Aff6, Aff7}, Qin, Vicky^{Aff8, Aff9}, Mateos, Marion K.^{Aff1, Aff2, Aff5}, Meyran, Deborah^{Aff8, Aff9}, Miller, Katherine E.^{Aff10, Aff11}, Yuksel, Aysen, Mould, Emily V. A., Bowen-James, Rachel^{Aff1, Aff13, Aff14}, Govender, Dinisha, Senapati, Akanksha, Zhukova, Nataliya^{Aff16, Aff17, Aff18}, Omer, Natacha^{Aff19, Aff20}, Dholaria, Hetal^{Aff21, Aff22}, Alvaro, Frank, Tapp, Heather, Diamond, Yonatan^{Aff5, Aff6}, Pozza, Luciano Dalla, Moore, Andrew S.^{Aff19, Aff25}, Nicholls, Wayne^{Aff19, Aff26}, Gottardo, Nicholas G.^{Aff21, Aff22}, McCowage, Geoffrey, Hansford, Jordan R.^{Aff24, Aff27}, Khaw, Seong-Lin^{Aff6, Aff7}, Wood, Paul J.^{Aff16, Aff17, Aff18}, Catchpoole, Daniel, Cottrell, Catherine E.^{Aff10, Aff11, Aff28}, Mardis, Elaine R.^{Aff10, Aff11, Aff29}, Marshall, Glenn M.^{Aff1, Aff2, Aff5}, Tyrrell, Vanessa^{Aff1, Aff2}, Haber, Michelle^{Aff1, Aff2}, Ziegler, David S.^{Aff1, Aff2, Aff5}, Vittorio, Orazio^{Aff1, Aff2}, Trapani, Joseph A.^{Aff8, Aff9}, Cowley, Mark J.^{Aff1, Aff2}, Neeson, Paul J.^{Aff8, Aff9}, Ekert, Paul G.^{Aff1, Aff2, Aff7, Aff8, Aff9, IDs1307302301170x_cor44}

المصدر: Genome Medicine. 15(1)

المؤلفون: Cottrell, Catherine E, Bender, Nicole R, Zimmermann, Michael T, Heusel, Jonathan W, Corliss, Meagan, Evenson, Michael J, Magrini, Vincent, Corsmeier, Donald J, Avenarius, Matthew, Dudley, Jeffrey N, Johnston, Jennifer J, Lindhurst, Marjorie J, Vigh-Conrad, Katinka, Davies, Olivia MT, Coughlin, Carrie C, Frieden, Ilona J, Tollefson, Megha, Zaenglein, Andrea L, Ciliberto, Heather, Tosi, Laura L, Semple, Robert K, Biesecker, Leslie G, Drolet, Beth A

المصدر: Genetics in Medicine. 23(10)

مصطلحات موضوعية: Genetics, Congenital Structural Anomalies, Pediatric, Cancer, Prevention, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Class Ia Phosphatidylinositol 3-Kinase, Humans, Limb Deformities, Congenital, Mutation, Phosphatidylinositol 3-Kinases, Signal Transduction, Vascular Malformations, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4c03c5bn

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