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1Academic Journal
المؤلفون: Giulliana Chávez-Pasco, Jeny Bazalar-Montoya, Cecilia Bonilla Suarez, Krista Bluske, Samuel Strom, Alka Malhotra, Becky Milewski, Erin Thorpe, Ryan Taft, Gioconda Manassero-Morales
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101262- (2024)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe
المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)
مصطلحات موضوعية: rare disease, RUGD, gene curation, gene-disease relationship, GDR, genome sequencing, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Laura Amendola, Alison Coffey, Samuel Strom, Akanchha Kesari, James Avecilla, Josh Lowry, Stetson Thacker, Julie Taylor, Kathryn Golden-Grant, Matt Brown, Becky Milewski, John Belmont, Denise Perry, Ryan Taft
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100467- (2023)
وصف الملف: electronic resource
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4
المؤلفون: Maegan E. Roberts, Zhixiong Xu, Becky Milewski, Wendy K. Chung, Nur Zeinomar, Xinran Ma, Lisa R. Susswein, Megan L. Marshall, Kathleen S. Hruska, Rachel T. Klein, Benjamin D. Solomon, Mary Beth Terry, Sarah A. Jackson, Amy R. Stettner
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Population, MLH1, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, breast cancer, Internal medicine, Medicine, Family history, education, Genetics (clinical), Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, MSH6, medicine.disease, Lynch syndrome, digestive system diseases, mismatch repair, 030104 developmental biology, PMS2, 030220 oncology & carcinogenesis, Population study, business
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5
المؤلفون: Nicholas J. Petrelli, Becky Milewski, Christine Keywan, Michael J. Guarino, Zohra Ali-Khan Catts, Muhammad Khurram Baig
المصدر: Annals of surgical oncology. 23(5)
مصطلحات موضوعية: Proband, Oncology, Adult, Male, medicine.medical_specialty, Adolescent, Population, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Germline mutation, Internal medicine, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, Family history, education, Germ-Line Mutation, Genetic testing, Aged, Neoplasm Staging, Retrospective Studies, Genetics, BRCA2 Protein, education.field_of_study, medicine.diagnostic_test, business.industry, BRCA1 Protein, Carcinoma, Cancer, Middle Aged, medicine.disease, Delaware, Prognosis, Lynch syndrome, Cancer registry, Pedigree, Pancreatic Neoplasms, 030220 oncology & carcinogenesis, Mutation, 030211 gastroenterology & hepatology, Surgery, Female, business, Follow-Up Studies