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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 -
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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 -
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المؤلفون: Beth Stronach
المصدر: Developmental Dynamics. 232:575-584
مصطلحات موضوعية: MAP Kinase Kinase 4, Morphogenesis, Genes, Insect, Mitogen-activated protein kinase kinase, Biology, medicine.disease_cause, Models, Biological, Sensitivity and Specificity, medicine, Animals, Cells, Cultured, Oligonucleotide Array Sequence Analysis, Mitogen-Activated Protein Kinase Kinases, Regulation of gene expression, Mutation, MAP kinase kinase kinase, Kinase, JNK Mitogen-Activated Protein Kinases, Gene Expression Regulation, Developmental, JUN kinase, MAP Kinase Kinase Kinases, Cell biology, Drosophila, Signal transduction, Signal Transduction, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed54843a3f3b6b082f8113df09d15bdTest
https://doi.org/10.1002/dvdy.20283Test