المؤلفون: Beth Stronach, Lisa Schoyer, Dominic Esposito, Katherine A. Rauen, Edjay R. Hernandez, Leslie G. Biesecker, Bruce D. Gelb, Mignon L. Loh, Andrea M. Gross, Pamela L. Wolters, Deborah K. Morrison, Megan N. Frone, Frank McCormick, Karen W. Gripp, Eric Legius, Lisa Schill, Staci Martin, Sharon A. Savage, Marielle E. Yohe, Brigitte C. Widemann, Douglas R. Stewart, Dina Zand

المصدر: Am J Med Genet A

مصطلحات موضوعية: Heart Defects, Congenital, Research Report, Oncology, medicine.medical_specialty, Neurofibromatosis 1, Breakthrough therapy, RASopathy, Cardiofaciocutaneous syndrome, Article, Costello syndrome, Ectodermal Dysplasia, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Molecular Targeted Therapy, Neurofibromatosis, Intersectoral Collaboration, Genetics (clinical), business.industry, Costello Syndrome, Noonan Syndrome, Facies, medicine.disease, National Cancer Institute (U.S.), United States, Failure to Thrive, Clinical trial, Mutation, ras Proteins, Selumetinib, Noonan syndrome, business, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3834d0c8df8d1fee6a93a60553d8e6Test
https://doi.org/10.1002/ajmg.a.61485Test

المؤلفون: Beverly Oberlander, Katherine A. Rauen, Christopher C. Gibson, Beth Stronach, John G. Albeck, Frank McCormick, William Timmer, Erin Hefner, William Y. C. Huang, Michelle Ellis, Edward C. Stites, Lisa Schoyer, Stanislav Y. Shvartsman, Ethan O. Perlstein, Suma P. Shankar, Martin McMahon, Philip J.S. Stork, Erika Yeh, Karen W. Gripp, Marc Therrien, Bruce D. Gelb, Annette Schenck, David A. Stevenson, Leslie Rogers, Lisa Schill, Cheng Sun, Bronwyn Kerr, Hélène Cavé, Brigitte C. Widemann, Corinne M. Linardic, Maxim Itkin, Steven M Fruchtman, Martin Zenker, Erik M. Ullian, Brage S. Andresen, Nancy Ratner, Giuseppe Zampino

المصدر: American Journal of Medical Genetics Part A. 176:2924-2929

مصطلحات موضوعية: 0301 basic medicine, Legius syndrome, MAPK/ERK pathway, business.industry, Cancer, medicine.disease, Bioinformatics, medicine.disease_cause, Phenotype, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Costello syndrome, 030220 oncology & carcinogenesis, Genetics, medicine, Noonan syndrome, Carcinogenesis, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c9efc4ac4581e8dcdbb0bb1fa168b24Test
https://doi.org/10.1002/ajmg.a.40632Test

المؤلفون: Maja Solman, Angie C. Jelin, Annie Kennedy, Alan L. Ho, Shin Ichi Inoue, Nancy Ratner, Susan Blaser, Emma Burkitt-Wright, Karin S. Walsh, Darryl B. McConnell, Michelle Ellis, Angelica Thomas, Gregg Erickson, Rebecca D. Burdine, Pau Castel, Gavin Rumbaugh, Beth Stronach, Richard J. T. Klein, Pablo Rodriguez-Viciana, Sandra Darilek, Bruce D. Gelb, Pilar L. Magoulas, Martin Zenker, Pamela L. Wolters, Amanda Brown, Tuesdi Dyer, James Lloyd Holder, Anna Sablina, Karen W. Gripp, Alwyn Dias, Lisa Schill, Kartik Venkatachalam, Lisa Schoyer, Marco Tartaglia, Amy E. Roberts, Neal Rosen, Tamar Green, Anton M. Bennett, William Timmer, Katherine A. Rauen, Frank McCormick, Andrea M. Gross, Maria I. Kontaridis, Jae Sung Yi, Carlos E. Prada, Benjamin G. Neel

المصدر: American journal of medical genetics. Part A, vol 182, iss 3
Am J Med Genet A
American Journal of Medical Genetics, Part A, 182(3), 597. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, MISSENSE MUTATIONS, 030105 genetics & heredity, Gene mutation, SYNDROME REVEALS, Patient advocacy, ACTIVATION, MYELIN STRUCTURE, Medicine, Noonan syndrome, Genetics(clinical), Genetics (clinical), Genetics & Heredity, HYPERTROPHIC CARDIOMYOPATHY, MOUSE MODEL, Medical research, Costello syndrome, PPP1CB, kinases, Drug development, Genetic Diseases, REPORTED OUTCOME MEASURES, Life Sciences & Biomedicine, Signal Transduction, medicine.medical_specialty, Clinical Sciences, NOONAN-SYNDROME, Context (language use), RASopathy, Article, cardio-facio-cutaneous syndrome, 03 medical and health sciences, Rare Diseases, Genetics, Humans, Intensive care medicine, Germ-Line Mutation, Mitogen-Activated Protein Kinase Kinases, Science & Technology, neurofibromatosis, business.industry, Precision medicine, medicine.disease, 030104 developmental biology, Inborn, Good Health and Well Being, ras Proteins, Personalized medicine, business

وصف الملف: application/pdf; image/pdf; Print-Electronic; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e4047f8a0f8a59aa9ba21ad0430336Test
https://doi.org/10.1002/ajmg.a.61434Test