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1Academic Journal
المؤلفون: Nicole Revencu, Laurence M Boon, John B Mulliken, Odile Enjolras, Maria Rosa Cordisco, Patricia E Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulalia Baselga, Francesco Brancati, Robin Carder, José Miguel, Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J Frieden, Maria Garzon, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J Paltiel, Annette Pohl, Julie Prendiville, Isabelle Quere, Dawn H Siegel, Enza Maria Valente, Annet Van Hagen, Liselot Van Hest, Keith K Vaux, Asuncion Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1053.677; http://vascularanomalies.hsdm.harvard.edu/Publications/Revencu_HumMut2008.pdf
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المؤلفون: Keith K. Vaux, Lisa Weibel, Eulalia Baselga, Christine Labrèze, Harriet J. Paltiel, Maria R. Cordisco, Nicole Revencu, Laurence M. Boon, Bruno Dallapiccola, Odile Enjolras, Robin Carder, Jennifer Johnson-Patel, Francesco Brancati, Annet Van Hagen, Gayle Fischer, David Chitayat, Frank Hammer, Patricia E. Burrows, John Harper, Julie S. Prendiville, Ilona J. Frieden, Asunción Vicente, John B. Mulliken, José Miguel Ceballos Quintal, Josée Dubois, Liselot Van Hest, Enza Maria Valente, Miikka Vikkula, Loreto Martorell, Philippe Clapuyt, Annette Pohl, Isabelle Quéré, Maria C. Garzon, Dawn H. Siegel
المساهمون: Human genetics, Other Research, University of Zurich, Vikkula, M
المصدر: Human Mutation, 29(7), 959-965. Wiley-Liss Inc.
Revencu, N, Boon, L M, Mulliken, J B, Eniolras, O, Cordisco, M R, Burrows, P E, Clapuyt, P, Hammer, F, Dubois, J, Baselga, E, Brancati, F, Carder, R, Quintal, J M C, Dallapiccola, B, Fischer, G, Frieden, I J, Garzon, M, Harper, J, Johnson-Patel, J, Labreze, C, Martorell, L, Paltiel, H J, Pohl, A, Prendiville, J, Quere, I, Siegel, D H, Valente, E M, van Hagen, J M, van Hest, L P, Vaux, K K, Vicente, A, Weibel, L, Chitayat, D & Vikkulal, M 2008, ' Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations ', Human Mutation, vol. 29, no. 7, pp. 959-965 . https://doi.org/10.1002/humu.20746مصطلحات موضوعية: 2716 Genetics (clinical), Pathology, medicine.medical_specialty, Capillary malformation, Vascular Malformations, Immunoglobulin Variable Region, P120 GTPase Activating Protein, 610 Medicine & health, Biology, medicine.disease_cause, Arteriovenous Malformations, 1311 Genetics, Genetics, medicine, Humans, PTEN, Family, Genetics(clinical), Neurofibromatosis, Telangiectasia, Genetics (clinical), Mutation, 10177 Dermatology Clinic, p120 GTPase Activating Protein, Syndrome, medicine.disease, Penetrance, Recombinant Proteins, Parkes Weber syndrome, Phenotype, Vein of Galen Malformations, biology.protein, medicine.symptom, Single-Chain Antibodies
وصف الملف: Revencu_HumMut_2008V.pdf - application/pdf; Revencu_HumMut_akz_2008V.pdf - application/pdf