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1دورية أكاديمية
المؤلفون: Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
المصدر: npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2397-768X
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المؤلفون: Gayle Patel, Morgan M Depas, Lily Hoang, Rob Pilarski, Brigette Tippin Davis, Elizabeth Hoodfar, Cara S. Dresbold, Olivia L. Tan, Meagan Farmer, Danielle Menashe, Samantha Stachowiak, Deborah Wham, Khateriaa Pyrtel, Sandra B. Jenkinson, Tiffani Demarco, Sara Pirzadeh-Miller, Elizabeth C. Chao, Danielle McKenna, Catherine Koptiuch, Jessica Profato, Rebekah C. Krukenberg, Jennifer L. Geurts, John G. Lee, Shraddha Gaonkar, Jen Moore, Nichole A. Morman, Danielle Dondanville, Deepika Nathan, Rachid Karam, Meredith Seidel, Holly LaDuca, Amal Yussuf, Kara J. Milliron, Carolyn Horton, Jill S. Dolinsky, Diane Samad, Cassie Garcia
المصدر: Cancer Research. 80:P6-08
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, PALB2, Cancer, medicine.disease, MLH1, MSH6, Breast cancer, MSH2, Internal medicine, medicine, business, CHEK2, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a50932ad25e8a5992a3fd2a38eb880ba
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-08 -
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المؤلفون: Margaret M. Emmet, Linda H Rodgers, Meredith Seidel, Mackenzie Wooters, Kristen M. Shannon
المصدر: Journal of Genetic Counseling
مصطلحات موضوعية: Telemedicine, medicine.medical_specialty, Service delivery framework, Genetic counseling, Genetic Counseling, 03 medical and health sciences, 0302 clinical medicine, Health care, Pandemic, Medicine, Humans, Genetics(clinical), Pandemics, Genetics (clinical), Genetic testing, 0303 health sciences, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, COVID-19, Test (assessment), Telephone, 030220 oncology & carcinogenesis, Family medicine, Cohort, business
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المؤلفون: Meagan Farmer, Brandon Smith, Kara N. Maxwell, Brigette Tippin-Davis, Julia Burdette, Danielle McKenna, Ashley A. Cass, Sinead Charpentier, Sitao Wu, Emily Dalton, Melissa Parra, Susanne Fox, Aaron Elliott, Holly LaDuca, Cathryn Koptiuch, Susan M. Domchek, Elizabeth Hoodfar, Robert Pilarski, Dong Xu, Khateriaa Pyrtel, Kara J. Milliron, Michele Fennessy, Gayle Patel, Lily Hoang, Morgan M Depas, Tina Pesaran, Rachid Karam, Meredith Seidel, Ann Bunnell, Huy Gia Vuong, Deborah Wham, Bing Li, Ragene Rivera, Jennie Vagher, Nichole A. Morman, Aarani Arulmoli, Sara Pirzadeh-Miller, Hsiao-Mei Lu, Jessica Profato, Joy Rae-Radecki Crandall, Elizabeth C. Chao, Ruth Baxter, Shraddha Gaonkar, Ginger Haynes, Amanda Ganzak, Deepika Nathan, Jennifer L. Geurts, Blair R. Conner, Tyler Landrith, Rebekah Krukenberg, John J. Lee, Christopher Heinlen, Bhuvan Molparia
المصدر: npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
NPJ Precision Oncologyمصطلحات موضوعية: 0301 basic medicine, Cancer Research, Genetic testing, Biology, MLH1, lcsh:RC254-282, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, MUTYH, Cancer genetics, CHEK2, Gene, RC254-282, Genetics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, ComputingMethodologies_PATTERNRECOGNITION, 030104 developmental biology, Oncology, MSH2, 030220 oncology & carcinogenesis, RNA splicing, Next-generation sequencing, RAD51C
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المؤلفون: Elizabeth Siqveland, Concepción Hernández-Chico, Jonathan Zonana, Melissa Crenshaw, Maurice J. Mahoney, Eric Legius, Helene Verhelst, Débora Romeo Bertola, Karen W. Gripp, Tom Callens, Jaishri O. Blakeley, Nicole J. Ullrich, Arelis Martir-Negron, Karol Rubin, Marica Eoli, Margaret R. Wallace, Jose Guevara-Campos, Karin Dahan, Zhenbin Chen, Patricia Galvin-Parton, Elaine H. Zackai, Isabelle Maystadt, Radhika Dhamija, Lane S. Rutledge, Meriel McEntagart, Rick van Minkelen, Geert Mortier, Meena Balasubramanian, La Donna Immken, Maria Daniela D'Agostino, Anne Destree, Alicia Gomes, Kenneth N. Rosenbaum, Rhonda L. Schonberg, Emma Burkitt-Wright, Meng-Chang Hsiao, Meena Upadhyaya, Sherrell Johnson, Meredith Seidel, Alessandro De Luca, Troy A. Becker, David T. Miller, Veronica Saletti, Bruce R. Korf, Shay Ben-Shachar, Carey McDougall, David W. Stockton, Magdalena Koczkowska, Kathleen Claes, Laura Russell, Ludwine Messiaen, D. Gareth Evans, Mitch Cunningham, Allison Schreiber, Scott R. Plotkin, Dinel A. Pond, Kristi J. Jones, Vickie Zurcher, Jaya K. George-Abraham, Alison Callaway, Beth Keena, Yunjia Chen, Neil A. Hanchard, Angela Sharp, Yoon Sim Yap, Karin Soares Gonçalves Cunha, Nancy J. Mendelsohn, Jenny Morton, Christopher P. Barnett, Yolanda Martin, Aaina Kochhar, Eva Trevisson, Jan Liebelt, John Pappas, Sandra Janssens
المساهمون: Clinical Genetics
المصدر: AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Koczkowska, M, Burkitt Wright, E, Evans, D G, Messiaen, L M & et al 2018, ' Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.12.001
American Journal of Human Genetics, 102(1), 69-87. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The American journal of human geneticsمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Cohort Studies, codons 844–848, Medicine and Health Sciences, Missense mutation, CSRD, Child, Genetics (clinical), Neurofibromatosis type I, Genetics, education.field_of_study, NEUROFIBROMATOSIS TYPE-I, Neurofibromin 1, Genetic disorder, Phenotype, NERVE SHEATH TUMORS, Female, codons 844-848, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, spinal NF, Neurofibromatosis 1, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Adolescent, Genetic counseling, Population, Mutation, Missense, NOONAN-SYNDROME, Spinal neurofibromas, genotype-phenotype correlation, neurofibromatosis type 1, Article, 03 medical and health sciences, Young Adult, MPNST, missense mutation, NF1, plexiform neurofibroma, medicine, Humans, Computer Simulation, Amino Acid Sequence, OPTIC PATHWAY GLIOMAS, Neurofibromatosis, education, Codon, Genetic Association Studies, Demography, SPINAL NEUROFIBROMATOSIS, business.industry, Biology and Life Sciences, NATURAL-HISTORY, SOUTH EAST WALES, medicine.disease, 030104 developmental biology, TYPE-1 NEUROFIBROMATOSIS, Human medicine, business, PLEXIFORM NEUROFIBROMAS
وصف الملف: application/pdf; Print-Electronic; pdf
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6Overlapping recognition determinants within the ssrA degradation tag allow modulation of proteolysis
المؤلفون: Robert T. Sauer, Igor Levchenko, Meredith Seidel, Sue Wickner, Julia M. Flynn, Tania A. Baker
المصدر: Proceedings of the National Academy of Sciences. 98:10584-10589
مصطلحات موضوعية: Recombinant Fusion Proteins, Endopeptidase Clp, Proteolysis, Green Fluorescent Proteins, Molecular Sequence Data, Biology, Bacterial Proteins, medicine, Amino Acid Sequence, Peptide sequence, Adenosine Triphosphatases, Multidisciplinary, medicine.diagnostic_test, Escherichia coli Proteins, C-terminus, Serine Endopeptidases, RNA, Translation (biology), Biological Sciences, AAA proteins, Cell biology, N-terminus, Luminescent Proteins, RNA, Bacterial, Biochemistry, Mutagenesis, ATPases Associated with Diverse Cellular Activities, Molecular Chaperones, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91be692f82c3101e17342a6bdc8a9a77
https://doi.org/10.1073/pnas.191375298 -
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المؤلفون: Meredith Seidel, Michele Gabree
المصدر: Cancer journal (Sudbury, Mass.). 18(4)
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Neurofibromatosis 2, Neurofibromatosis 1, Skin Neoplasms, Basal Cell Nevus Syndrome, Genetic Counseling, medicine, Humans, Medical history, Genetic Predisposition to Disease, Genetic Testing, Neurofibromatosis type 2, Neurofibromatosis, Hereditary Melanoma, Melanoma, Genetic testing, medicine.diagnostic_test, business.industry, Cancer, Cowden syndrome, medicine.disease, Dermatology, Oncology, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58c3d87f6d9a341eb19fc8e89abda9c1
https://pubmed.ncbi.nlm.nih.gov/22846740 -
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المؤلفون: Robert T. Sauer, Igor Levchenko, Meredith Seidel, Tania A. Baker
المصدر: Science (New York, N.Y.). 289(5488)
مصطلحات موضوعية: Endopeptidase Clp, ATPase, medicine.medical_treatment, Green Fluorescent Proteins, Peptide, Ribosome, Substrate Specificity, Bacterial Proteins, Operon, medicine, Protein biosynthesis, Escherichia coli, Gel electrophoresis, chemistry.chemical_classification, Adenosine Triphosphatases, Multidisciplinary, Protease, biology, Escherichia coli Proteins, Serine Endopeptidases, Luminescent Proteins, Enzyme, chemistry, Biochemistry, Mutation, biology.protein, Oligopeptides, Ribosomes
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