المؤلفون: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

المصدر: BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1741-7015Test

الوصول الحر: https://doaj.org/article/7ae57346a2ed465d9bdbdfb8577900b2Test

المؤلفون: Marcus C. Parrish, Andrea Hanson-Kahn, V. Srinivasan, Kevin V. Grimes

المصدر: Journal of Clinical and Translational Science, Vol 6 (2022)

مصطلحات موضوعية: Huntington’s disease, patient preferences, choice-based conjoint survey, preventive treatment, regulatory policy, Medicine

وصف الملف: electronic resource

العلاقة: https://www.cambridge.org/core/product/identifier/S2059866122003727/type/journal_articleTest; https://doaj.org/toc/2059-8661Test

الوصول الحر: https://doaj.org/article/dccf8670eebc4c48b2695b9b5df5f695Test

المؤلفون: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

المصدر: BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1741-7015Test

الوصول الحر: https://doaj.org/article/0c0c1663790f40ce8a666b2757242ff1Test

المؤلفون: Eden V. Haverfield (11287683), Edward D. Esplin (11287686), Sienna J. Aguilar (11287689), Kathryn E. Hatchell (11287692), Kelly E. Ormond (10515112), Andrea Hanson-Kahn (11287695), Paldeep S. Atwal (8791685), Sarah Macklin-Mantia (11287698), Stephanie Hines (9387319), Caron W.-M. Sak (11287701), Steven Tucker (11287704), Steven B. Bleyl (11287707), Peter J. Hulick (3147177), Ora K. Gordon (11287710), Lea Velsher (5520257), Jessica Y. J. Gu (11287713), Scott M. Weissman (11287716), Teresa Kruisselbrink (11287719), Christopher Abel (11287722), Michele Kettles (11287725), Anne Slavotinek (78604), Bryce A. Mendelsohn (5688410), Robert C. Green (5586524), Swaroop Aradhya (10753866), Robert L. Nussbaum (11287728)

مصطلحات موضوعية: Genetics, Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Physician-directed_genetic_screening_to_evaluate_personal_risk_for_medically_actionable_disorders_a_large_multi-center_cohort_study/15184830Test

الإتاحة: https://doi.org/10.6084/m9.figshare.15184830.v1Test

المؤلفون: Eden V. Haverfield (11287683), Edward D. Esplin (11287686), Sienna J. Aguilar (11287689), Kathryn E. Hatchell (11287692), Kelly E. Ormond (10515112), Andrea Hanson-Kahn (11287695), Paldeep S. Atwal (8791685), Sarah Macklin-Mantia (11287698), Stephanie Hines (9387319), Caron W.-M. Sak (11287701), Steven Tucker (11287704), Steven B. Bleyl (11287707), Peter J. Hulick (3147177), Ora K. Gordon (11287710), Lea Velsher (5520257), Jessica Y. J. Gu (11287713), Scott M. Weissman (11287716), Teresa Kruisselbrink (11287719), Christopher Abel (11287722), Michele Kettles (11287725), Anne Slavotinek (78604), Bryce A. Mendelsohn (5688410), Robert C. Green (5586524), Swaroop Aradhya (10753866), Robert L. Nussbaum (11287728)

مصطلحات موضوعية: Genetics, Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Physician-directed_genetic_screening_to_evaluate_personal_risk_for_medically_actionable_disorders_a_large_multi-center_cohort_study/15184833Test

الإتاحة: https://doi.org/10.6084/m9.figshare.15184833.v1Test

المؤلفون: Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann

المساهمون: Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4Test
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins

مصطلحات موضوعية: medicine.medical_specialty, HOMEOSTASIS, Microcytic anemia, Medizin, Disease, Gastroenterology, DISEASE, MECHANISMS, TRANSFER-RNA SYNTHETASES, Seizures, Internal medicine, Genotype, medicine, Humans, Stroke, Genetics (clinical), RECESSIVE MUTATIONS, medicine.diagnostic_test, Muscular hypotonia, business.industry, infantile liver failure syndrome type 1, Magnetic resonance imaging, LARS1, acute liver failure, medicine.disease, Phenotype, aminoacyl-tRNA synthetase deficiency, Mutation, ONSET, Muscle Hypotonia, business, Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke, metabolic stroke, Liver Failure, Homeostasis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a283fec073d0bfac9ee14639992eedTest
https://research.rug.nl/en/publications/03f5a315-5c5a-4d2f-8e51-7646d711e249Test

المؤلفون: Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung

المصدر: Human Mutation. 41:150-168

مصطلحات موضوعية: Male, Genome instability, Disease, Biology, Contiguous gene syndrome, Article, Chromosome Breakpoints, 03 medical and health sciences, Quantitative Trait, Heritable, Sex Factors, X Chromosome Inactivation, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Gene, Genetic Association Studies, Genetics (clinical), Repetitive Sequences, Nucleic Acid, 030304 developmental biology, Chromosomes, Human, X, Comparative Genomic Hybridization, 0303 health sciences, Sex-limited genes, 030305 genetics & heredity, Breakpoint, Chromosome Mapping, Syndrome, medicine.disease, Pedigree, Phenotype, Child, Preschool, Female, Chromosome Deletion, Nervous System Diseases, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423d7100f94d7f74a7d5bf50aa5f936bTest
https://doi.org/10.1002/humu.23902Test

المؤلفون: Kristina Cotter, Andrea Hanson-Kahn, Sharon J. Sha, Carly E. Siskind

المصدر: Journal of Huntington's Disease. 8:421-430

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Therapeutic misconception, media_common.quotation_subject, Disease, medicine.disease, 3. Good health, Clinical trial, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Clinical research, Optimism, Huntington's disease, Informed consent, Family medicine, Medicine, Social media, Neurology (clinical), business, 030217 neurology & neurosurgery, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e73ce70d1b6856c9214de28e0efc7f6Test
https://doi.org/10.3233/jhd-190382Test

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 Medicine

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fadf76aaada9bbc9152843a5949f01deTest
https://doi.org/10.1186/s12916-021-01999-2Test

المؤلفون: Colleen Caleshu, Andrea Hanson-Kahn, Rebecca C. Luiten, Trishna Subas, Matthew T. Wheeler

المصدر: Journal of Genetic Counseling. 28:119-129

مصطلحات موضوعية: Gerontology, 0303 health sciences, medicine.medical_specialty, Heart disease, business.industry, Genetic counseling, Long QT syndrome, Public health, 030305 genetics & heredity, Mean age, medicine.disease, Sudden death, Nonprobability sampling, 03 medical and health sciences, Regimen, 0302 clinical medicine, 030220 oncology & carcinogenesis, Medicine, cardiovascular diseases, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2065a23523885a3695db62a7ee0c14dTest
https://doi.org/10.1007/s10897-018-0297-6Test