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1دورية أكاديمية
المؤلفون: Carolyn Horton, Ashley Cass, Blair R. Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Mahoney, Courtney Schroeder, Wilfredo Torres-Martinez, Aaron Elliott, Elizabeth C. Chao, Rachid Karam
المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-6 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية 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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3
المؤلفون: Sumit Parikh, Virginia Kimonis, Peggy S. Eis, Moyra Smith, Kathy Hall, Elizabeth C. Chao, Blair R. Conner, Rehab al Dubaisi, Philip H. Schwartz, Lan Weiss, Anton N. Hasso, Alexander E. Stover, Eli Hatchwell, Sitao Wu, Janneke Balk, Sha Tang, Rachid Karam, Cheng Cheng, Bethany Berg, Daryl A. Scott, Mary Kay Koenig, Andrew E Maclean
مصطلحات موضوعية: medicine.medical_specialty, Ataxia, business.industry, Mitochondrial disease, medicine.disease, Compound heterozygosity, Gastroenterology, Internal medicine, Genetics, medicine, Medical genetics, Missense mutation, Cerebellar atrophy, Global developmental delay, medicine.symptom, business, Genetics (clinical), Exome sequencing
وصف الملف: application/pdf
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4
المؤلفون: Sitao Wu, Lior Jankelson, Larry A. Chinitz, Linda Borneman, Steven J. Fowler, Marina Cerrone, Rachid Karam, Heather Zimmermann, Blair R. Conner
المصدر: HeartRhythm Case Reports
مصطلحات موضوعية: In silico, Case Report, 030204 cardiovascular system & hematology, Bioinformatics, Sudden death, 03 medical and health sciences, 0302 clinical medicine, Genetics, Medicine, RNA testing, 030212 general & internal medicine, Ventricular fibrillation, Exome, Genetic testing, Lamin A/C, medicine.diagnostic_test, business.industry, RNA, Sudden cardiac arrest, medicine.disease, RNA splicing, medicine.symptom, Cardiology and Cardiovascular Medicine, business
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5
المؤلفون: Rachid Karam, Tina Pesaran, Phillip Gray, Pei Tsai, Adam C. Chamberlin, Hansook Kim Chong, Blair R. Conner, Vickie Hsuan, Aaron Elliott, Stephanie Lam, Sara Willett, Min-Sun Park, Wenbo Mu, Marcy E. Richardson
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Alu, Computational biology, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, chemistry.chemical_compound, Breast cancer, medicine, Tandem duplication, Gene, License, Genetics (clinical), Hardware_MEMORYSTRUCTURES, HBOC, Breakpoint, Creative commons, medicine.disease, VUS, 030104 developmental biology, chemistry, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Tandem exon duplication, DNA
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6
المؤلفون: Rachid Karam, Tina Pesaran, Marcy E. Richardson, Terra Brannan, Tamara McBride, Noriko Yokoyama, Blair R. Conner, Tyler Landrith, Felicia Hernandez
المصدر: Molecular Genetics and Metabolism. 132:S33-S34
مصطلحات موضوعية: Endocrinology, law, Endocrinology, Diabetes and Metabolism, RNA splicing, Genetics, Suppressor, Biology, Molecular Biology, Biochemistry, Gene, Cell biology, law.invention
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7
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: Blair R. Conner, Suzette Farber-Katz, Rachid Karam, Aaron Elliott, Jill S. Dolinsky, Patrick Reineke, Marcy E. Richardson, Elizabeth C. Chao, Deborah Toppmeyer, Sarah Nashed, Ginger Haynes, John J. Lee, Brigette Tippin Davis, Kyle Allen, Tina Pesaran, Stephanie Gutierrez, Amal Yussuf, Holly LaDuca, Debra L. Collins, Samantha Culver, Lily Hoang, Kelly McGoldrick, Huma Q. Rana, Kate Krempely, Heather Zimmermann
المصدر: JAMA network open. 2(10)
مصطلحات موضوعية: Oncology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Cancer predisposition, Decision Making, General Medicine, medicine.disease, Lynch syndrome, Treatment Outcome, Internal medicine, Neoplasms, Cohort, medicine, Humans, RNA, Hereditary Cancer, Genetic Predisposition to Disease, Genetic Testing, Hereditary diffuse gastric cancer, business, Ovarian cancer, Uncertain significance, Genetic testing, Original Investigation
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المؤلفون: Blair R. Conner, Holly LaDuca, Rachid Karam, Elizabeth C. Chao, Tina Pesaran, Marcy E. Richardson, Felicia Hernandez
المصدر: Molecular Case Studies. 8:a006152
مصطلحات موضوعية: Genetics, Exon, MUTYH, RNA splicing, RNA, splice, General Medicine, Biology, Compound heterozygosity, Phenotype, Germline
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::722bd792f34c2bd96c59ac1611511380
https://doi.org/10.1101/mcs.a006152 -
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المؤلفون: Susan E. Prockop, Rachid Karam, Sitao Wu, Michael Walsh, Charlotte Cunningham-Rundles, Travis Sifers, Blair R. Conner, Shoji Ichikawa, Elise Fiala
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, Proband, RNA Splicing, In silico, DNA Mutational Analysis, Biology, Exon, medicine, Humans, Genetic Predisposition to Disease, Reticular dysgenesis, Alleles, Genetic Association Studies, Genetics, Peripheral Blood Stem Cell Transplantation, Messenger RNA, Severe combined immunodeficiency, Adenylate Kinase, Infant, Newborn, Genetic Variation, Infant, RNA, Research Reports, Exons, Leukopenia, General Medicine, severe combined immunodeficiency, medicine.disease, Introns, Phenotype, Treatment Outcome, Mutation, RNA splicing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfeeb9960924bda7a52d8b67ee854b68
https://doi.org/10.1101/mcs.a005017