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1دورية أكاديمية
المؤلفون: Michael A. Olaopa, Katherine G. Spoonamore, Deepak Bhakta, Zhenhui Chen, Patricia B.S. Celestino-Soper, Peng-Sheng Chen, Tomohiko Ai, Matteo Vatta
المصدر: Cardiogenetics, Vol 8, Iss 1 (2018)
مصطلحات موضوعية: Lamin A/C, atrioventricular block, cardiomyopathy, sodium channel., Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: https://www.pagepressjournals.org/index.php/cardiogen/article/view/7127Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test
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2دورية أكاديمية
المؤلفون: Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, Matteo Vatta
المصدر: Cardiogenetics, Vol 5, Iss 1 (2015)
مصطلحات موضوعية: MYLK, familial thoracic aortic aneurysm and dissection, post mortem genetic testing, aortopathy., Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: http://www.pagepressjournals.org/index.php/cardiogen/article/view/5251Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test
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المؤلفون: Allison F. Rickman, Sara M. Fitzgerald‐Butt, Katherine G. Spoonamore, Stephanie M. Ware, Benjamin M. Helm
المصدر: Journal of Genetic Counseling. 32:362-375
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35446f8a00538011f7d83a5814ba01cfTest
https://doi.org/10.1002/jgc4.1643Test -
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المؤلفون: Brooke Richardson, Amy M. Breman, Leah Wetherill, Benjamin M. Helm, Sara Fitzgerald-Butt, Katherine G. Spoonamore
المصدر: Journal of Genetic Counseling. 31:479-488
مصطلحات موضوعية: Duty to Recontact, Protocol (science), medicine.medical_specialty, medicine.diagnostic_test, Genetic counseling, Exploratory research, Genetic Counseling, Ordering Physician, United States, Preference, Counselors, Surveys and Questionnaires, Family medicine, medicine, Humans, Medical genetics, Genetic Testing, Psychology, Genetics (clinical), Standard operating procedure, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d500f1f69b019657df9d9e364ff3e831Test
https://doi.org/10.1002/jgc4.1514Test -
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المؤلفون: Ana Morales, Amy R. Shikany, Crystal Tichnell, Sara Spencer, W. Aaron Kay, Katherine G. Spoonamore, Harikrishna Tandri, Patricia Arscott, Sara Fitzgerald-Butt, Christi Munn, Emily James, Brittney Murray, Emily Smith, Gretchen MacCarrick, Dawn C. Allain, Jessica D. Kushner
المصدر: Journal of Genetic Counseling. 26:669-688
مصطلحات موضوعية: Adult, medicine.medical_specialty, Evidence-based practice, Heart disease, Genetic counseling, Pregnancy Complications, Cardiovascular, Population, Genetic Counseling, 030204 cardiovascular system & hematology, Subspecialty, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Risk Factors, Prenatal Diagnosis, Humans, Medicine, 030212 general & internal medicine, Intensive care medicine, education, Genetics (clinical), education.field_of_study, business.industry, Public health, medicine.disease, Counselors, Cardiovascular Diseases, Physical therapy, Female, business, Psychosocial
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cf0d6487919d13d95220d0c0ea29ebTest
https://doi.org/10.1007/s10897-017-0081-zTest -
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المؤلفون: Shotaro Wani, Mai Iizuka, Yumiko Yamasaki-Kato, Marina Togo-Ohno, Matteo Vatta, Taeko Naruse, Katherine G. Spoonamore, Akinori Kimura, Tomohiko Ai, Yuichi Hiraoka, Richard J. Kovacs, Rie Murayama, Takeshi Yamamoto, Takeharu Hayashi, Masumi Saito, Mariko Kimura-Asami, Hidehito Kuroyanagi
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-14 (2018)
مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, 0301 basic medicine, Adolescent, RNA Splicing, Nuclear Localization Signals, Nonsense mutation, Protein domain, Mutation, Missense, lcsh:Medicine, Mice, Transgenic, medicine.disease_cause, Mice, 03 medical and health sciences, Protein Domains, medicine, Animals, Humans, Missense mutation, Phosphorylation, lcsh:Science, Mutation, Multidisciplinary, biology, Chemistry, lcsh:R, RNA-Binding Proteins, Middle Aged, Cell biology, 030104 developmental biology, Amino Acid Substitution, RNA splicing, biology.protein, Female, lcsh:Q, Titin, Nuclear localization sequence
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb74ab83efb92cae5193a54562d6fb5Test
https://doi.org/10.1038/s41598-018-26624-wTest -
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المؤلفون: Lindsey R Elmore, Samantha L. Freeze, Katherine G. Spoonamore, Tae Hwi Schwantes-An, Stephanie M. Ware, Hannah E. Ison
المصدر: Journal of genetic counseling. 28(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Patient Empowerment, media_common.quotation_subject, Genetic counseling, Genetic Counseling, Disclosure, Surveys and Questionnaires, medicine, Humans, In patient, Family, Genetic Testing, Patient Reported Outcome Measures, Empowerment, Genetics (clinical), media_common, business.industry, Test (assessment), Family medicine, Scale (social sciences), Medical genetics, Patient-reported outcome, Female, Patient Care, Patient Participation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bec2deb4ffb01bf2fd2b86e9a4d8b65fTest
https://pubmed.ncbi.nlm.nih.gov/30680842Test -
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المصدر: Journal of genetic counseling. 27(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, health care facilities, manpower, and services, Genetic counseling, education, Context (language use), Genetic Counseling, 030204 cardiovascular system & hematology, 030105 genetics & heredity, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, Professional Role, Surveys and Questionnaires, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, medicine.diagnostic_test, Public health, Uncertainty, Geneticist, Special Interest Group, humanities, Human genetics, Test (assessment), Counselors, Job Description, Cardiovascular Diseases, Family medicine, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f652a7a5e40871455a4549bc75cf2441Test
https://pubmed.ncbi.nlm.nih.gov/29234989Test -
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المؤلفون: Katherine G. Spoonamore, Samantha L. Freeze, Mark D. Ayers, Benjamin M. Helm, Adam C. Kean, Stephanie M. Ware
المصدر: Journal of genetic counseling. 27(3)
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, medicine.medical_specialty, Genetic counseling, Long QT syndrome, Cardiomyopathy, Genetic Counseling, Disease, 030204 cardiovascular system & hematology, 030105 genetics & heredity, Subspecialty, Sudden death, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Family history, Child, Genetics (clinical), business.industry, Public health, Arrhythmias, Cardiac, medicine.disease, Long QT Syndrome, Counselors, Emergency medicine, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aa0404d34e1a2410def8f4695aa33bTest
https://pubmed.ncbi.nlm.nih.gov/29079892Test -
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المؤلفون: Matteo Vatta, Hongyu Gao, Ty C. Lynnes, Patrícia B. S. Celestino-Soper, Yunlong Liu, Katherine G. Spoonamore, Hai Lin, Peng-Sheng Chen
المصدر: Frontiers in Cardiovascular Medicine
مصطلحات موضوعية: 0301 basic medicine, Clinical team, clinical sequencing, Computational biology, Cardiovascular Medicine, Bioinformatics, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Targeted ngs, Gene panel, Medicine, Likely pathogenic, Original Research, Sanger sequencing, sequencing panels, business.industry, cardiovascular, panel validation, 3. Good health, 030104 developmental biology, Clinical diagnosis, symbols, next-generation sequencing, Cardiology and Cardiovascular Medicine, business, Quality assurance, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f392b9c0404ff42dd510f9597145eefTest