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1دورية أكاديمية
المؤلفون: Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
المصدر: Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-5 (2020)
مصطلحات موضوعية: Hereditary cancer, Pancreatic cancer, Platinum chemotherapy, PARP inhibitors, BRCA1/2, Genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المصدر: Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-3 (2020)
مصطلحات موضوعية: AXIN2, Hereditary cancer syndrome, Hereditary polyposis, Cancer, Hypodontia, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder, Douglas L. Riegert-Johnson
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: AXIN2, Hereditary cancer syndrome, Hereditary polyposis, Hereditary colorectal cancer, Hypodontia, Olfactory neuroblastoma, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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5Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
المؤلفون: Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
المصدر: The American Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c499b888e214073eb018b6346f98d839
https://doi.org/10.1016/j.ajhg.2023.04.006 -
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المؤلفون: Sarah K. Macklin‐Mantia, Kristin E. Clift, Santo Maimone, David O. Hodge, Douglas Riegert‐Johnson, Stephanie L. Hines
المصدر: Journal of genetic counselingREFERENCES.
مصطلحات موضوعية: Genetics (clinical)
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المؤلفون: Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
المصدر: Genetics in Medicine. 25:100359
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Multivariate analysis, business.industry, Translational research, Genomics, Disease, 030105 genetics & heredity, Omics, Undiagnosed Diseases, Translational Research, Biomedical, 03 medical and health sciences, 030104 developmental biology, Phenotype, Exome Sequencing, Medicine, Humans, Exome, Personalized medicine, Genetic Testing, business, Exome sequencing, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04a
https://doi.org/10.1016/j.gim.2022.12.006 -
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المؤلفون: Sienna Aguilar, Ora K. Gordon, Anne Slavotinek, Robert C. Green, Steven Tucker, Jessica Y. J. Gu, Eden Haverfield, Stephanie L. Hines, Steven B. Bleyl, Andrea Hanson-Kahn, Teresa M. Kruisselbrink, Robert L. Nussbaum, Bryce A. Mendelsohn, Edward D. Esplin, Paldeep S. Atwal, Kathryn E. Hatchell, Swaroop Aradhya, Sarah K. Macklin-Mantia, Scott M. Weissman, Michele Kettles, Kelly E. Ormond, Lea Velsher, Peter J. Hulick, Caron W.-M. Sak, Christopher Abel
المصدر: BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)
BMC Medicineمصطلحات موضوعية: Adult, medicine.medical_specialty, Context (language use), Disease, Cohort Studies, Population screening, Physicians, Internal medicine, Health care, medicine, Humans, Exome, Genetic Predisposition to Disease, Genetic Testing, Clinical genetics, Copy-number variation, Hereditary cancer syndromes, Monogenic disorders, business.industry, Correction, Genomics, Proactive genetic screening, General Medicine, Cardiovascular disorders, Penetrance, Medicine, Medical genetics, business, Research Article, Cohort study
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المؤلفون: Stephen L Ko, Stephanie L. Hines, Qihui Zhai, Niloy Jewel Samadder, Angela M. Donaldson, Sarah K. Macklin-Mantia, Douglas L. Riegert-Johnson, Kaisorn L. Chaichana
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Geneticsمصطلحات موضوعية: Adenoma, Male, 0301 basic medicine, Proband, lcsh:Internal medicine, medicine.medical_specialty, Ectodermal dysplasia, lcsh:QH426-470, Hereditary polyposis, AXIN2, Esthesioneuroblastoma, Olfactory, Case Report, 030105 genetics & heredity, Familial adenomatous polyposis, Hereditary cancer syndrome, 03 medical and health sciences, Axin Protein, Olfactory neuroblastoma, Esthesioneuroblastoma, Stomach Neoplasms, Radiography, Panoramic, Genetics, medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Olfactory Neuroblastoma, business.industry, Hypodontia, Cancer, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Dermatology, Penetrance, Pedigree, lcsh:Genetics, Germ Cells, Phenotype, 030104 developmental biology, Hereditary colorectal cancer, Female, Gastric adenomas, business
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المصدر: Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-5 (2020)مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Genetic testing, lcsh:QH426-470, PALB2, 030105 genetics & heredity, lcsh:RC254-282, 03 medical and health sciences, 0302 clinical medicine, BRCA1/2, Internal medicine, Pancreatic cancer, medicine, PARP inhibitors, Genetics (clinical), Predictive marker, medicine.diagnostic_test, business.industry, Medical record, Research, Cancer, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Hereditary cancer, Platinum chemotherapy, lcsh:Genetics, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Medical genetics, Pancreas, business