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المؤلفون: Xi Chen, Dipti Pawaskar, Fiona Glassman, Mark Biondo, Frauke May, Anthony Roberts, Andrew McKenzie, Michael A. Tortorici, Marc W. Nolte, William J. Jusko
المصدر: Clinical and Translational Science. 15:709-720
مصطلحات موضوعية: Factor XII, medicine.diagnostic_test, Chemistry, medicine.drug_class, General Neuroscience, Angioedemas, Hereditary, Antibodies, Monoclonal, General Medicine, Kallikrein, Factor XIIa, Pharmacology, medicine.disease, Monoclonal antibody, General Biochemistry, Genetics and Molecular Biology, Macaca fascicularis, Drug development, Pharmacokinetics, Pharmacodynamics, Hereditary angioedema, medicine, Animals, Humans, Computer Simulation, General Pharmacology, Toxicology and Pharmaceutics, Partial thromboplastin time
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c60ab1e3fef2cc740cfc6c314ad35ecTest
https://doi.org/10.1111/cts.13192Test -
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المؤلفون: Dipti Pawaskar, Anthony Roberts, Andrew McKenzie, Con Panousis, Sourabh Malandkar, Henrike Feuersenger
المصدر: Clinical and Translational Science. 15:626-637
مصطلحات موضوعية: Male, Factor XIIa, Pharmacology, Placebo, General Biochemistry, Genetics and Molecular Biology, Double-Blind Method, Pharmacokinetics, medicine, Humans, General Pharmacology, Toxicology and Pharmaceutics, Adverse effect, Prothrombin time, Dose-Response Relationship, Drug, medicine.diagnostic_test, business.industry, General Neuroscience, Angioedemas, Hereditary, Antibodies, Monoclonal, COVID-19, General Medicine, medicine.disease, Tolerability, Pharmacodynamics, Hereditary angioedema, business, Partial thromboplastin time
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe9fcfcfd007e48afd4e8d3613a7c6cTest
https://doi.org/10.1111/cts.13180Test -
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المؤلفون: Eric Lu, Shantao Li, Kathryn E. Hatchell, Heather R. Christofk, Blake R. Wilde, Brian Shuch, Keith Nykamp, Shirin Zavoshi, Liying Zhang, Sarah M. Nielsen, Karen Ouyang, Edward D. Esplin, Paul C. Boutros
المصدر: Cancer
Cancer, vol 128, iss 4مصطلحات موضوعية: Oncology, Cancer Research, Kidney Disease, Skin Neoplasms, Fumarase deficiency, urologic and male genital diseases, Germline, Fumarate Hydratase, Renal cell carcinoma, Prevalence, kidney neoplasms, 2.1 Biological and endogenous factors, Aetiology, Cancer, education.field_of_study, medicine.diagnostic_test, Penetrance, Kidney Neoplasms, Hereditary, Uterine Neoplasms, Public Health and Health Services, Female, hereditary leiomyomatosis and renal cell cancer, fumarate hydratase, medicine.medical_specialty, Oncology and Carcinogenesis, Population, Article, genetic testing, Cancer syndrome, Clinical Research, Neoplastic Syndromes, Hereditary, Leiomyomatosis, Internal medicine, Genetics, medicine, Humans, Neoplastic Syndromes, Oncology & Carcinogenesis, education, Carcinoma, Renal Cell, Germ-Line Mutation, Genetic testing, business.industry, Carcinoma, Renal Cell, medicine.disease, Germ Cells, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9329cf780776a08eb9465747082db076Test
https://doi.org/10.1002/cncr.33997Test -
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المؤلفون: Sascha Vermeer, Matthieu Moisse, Liesbeth Keldermans, Kristl G. Claeys, Sien Hilde Van Daele, Hilde Van Esch, Philip Van Damme, Amélie Van Eesbeeck, Valerie Race
المصدر: European Journal of Neurology. 29:345-349
مصطلحات موضوعية: medicine.medical_specialty, medical genetics, Ataxia, Hereditary spastic paraplegia, Ubiquitin-Protein Ligases, sensory, genotype-phenotype correlation, case study, Sensory ataxia, medicine, Humans, Loss function, Exome sequencing, Retrospective Studies, Genetic testing, Genetics, medicine.diagnostic_test, Spastic Paraplegia, Hereditary, Genetic heterogeneity, business.industry, ataxia, spastic paraparesis, medicine.disease, Pedigree, Phenotype, Neurology, Mutation, Medical genetics, Neurology (clinical), medicine.symptom, business
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cab58cec45cdadd91098bd79b2ce8cbTest
https://doi.org/10.1111/ene.15091Test -
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المؤلفون: Vincenzo Lupo, Juan F. Vázquez-Costa, Carmen Espinós, Miguel Tomás-Vila, Teresa Sevilla, Inmaculada Pitarch, Herminia Argente-Escrig, Elvira Millet-Sancho, Marina Frasquet
المصدر: Annals of Clinical and Translational Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ARYLSULFATASE, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, CHARCOT-MARIE-TOOTH, GUIDELINES, PHENOTYPE, VALIDATION, HEREDITARY NEUROPATHIES, Young Adult, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, RC346-429, Child, Prospective cohort study, Referral and Consultation, Gene, Research Articles, Genetic testing, DISEASE FREQUENCY, medicine.diagnostic_test, MUTATIONS, Mediterranean Region, business.industry, General Neuroscience, Disease progression, Peripheral Nervous System Diseases, Inherited Peripheral Neuropathy, NATURAL-HISTORY, Clinical trial, Spain, Child, Preschool, Referral center, Female, Neurology. Diseases of the nervous system, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, business, RC321-571, GENETIC SUBTYPES, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a679369bfc41ef9a7623dfdb02b9a1Test
https://doi.org/10.1002/acn3.51432Test -
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المؤلفون: Shinobu Minatani, Hiroyuki Hatsuta, Yoshiaki Itoh, Akitoshi Takeda, Itsuki Hasegawa, Takahito Yoshizaki, Kunihiro Yoshida, Yasufumi Kondo, Takato Abe, Hiroka Sakaguchi, Kosuke Okamoto, Naotaka Miyazawa, Toshikazu Mino
المصدر: Neurology and Clinical Neuroscience. 9:369-375
مصطلحات موضوعية: コロニー刺激因子1受容体, medial frontal lobe, medicine.diagnostic_test, business.industry, cerebral blood flow, white matter lesion, White matter lesion, CSF1R, Single-photon emission computed tomography, medicine.disease, hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, Neurology, Cerebral blood flow, 遺伝性びまん性白質脳症, 白質病変, medicine, Hereditary diffuse leukoencephalopathy with spheroids, Neurology (clinical), Nuclear medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24dae2410606e75fe020cc375ae606d8Test
https://doi.org/10.1111/ncn3.12525Test -
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المؤلفون: Yasemin Kendir Demirkol, Nihat Bugra Agaoglu, Mehmet Karacan, Ozlem Akgun-Dogan, Levent Doganay, Yakup Ergül
المصدر: Journal of Cardiovascular Electrophysiology. 33:262-273
مصطلحات موضوعية: ERG1 Potassium Channel, congenital, hereditary, and neonatal diseases and abnormalities, Turkish population, Calcium Channels, L-Type, Turkey, Long QT syndrome, Bioinformatics, QT interval, NAV1.5 Voltage-Gated Sodium Channel, Sudden cardiac death, Variable Expression, Physiology (medical), Humans, Medicine, cardiovascular diseases, Potassium Channels, Inwardly Rectifying, Gene, Genetic testing, medicine.diagnostic_test, business.industry, medicine.disease, Long QT Syndrome, KCNQ1 Potassium Channel, Mutation, Cardiology and Cardiovascular Medicine, business, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb9c533cac34c1d4705d238ef69edcbTest
https://doi.org/10.1111/jce.15306Test -
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المؤلفون: Aihui Di, Huishu Yuan, Yan Zhang
المصدر: International Journal of Rheumatic Diseases. 25:147-153
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Computed tomography, Tendons, Rheumatology, Monosodium urate, medicine, Humans, In patient, Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, Arthritis, Gouty, Foot, business.industry, nutritional and metabolic diseases, Dual-Energy Computed Tomography, Middle Aged, medicine.disease, Uric Acid, Gout, Anatomical sites, Disease Progression, Crystal deposition, Female, Tomography, X-Ray Computed, Nuclear medicine, business, Foot (unit)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7aa5db97ab539ae369e67e686b382a9Test
https://doi.org/10.1111/1756-185x.14249Test -
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المؤلفون: Emily Hogden, Karen Canfell, Natalie Taylor, April Morrow, Victoria Freeman, Gabriella Tiernan, Yoon-Jung Kang
المصدر: Psycho-Oncology. 31:587-596
مصطلحات موضوعية: medicine.diagnostic_test, Cost-Benefit Analysis, Australia, Psycho-oncology, Psychological intervention, Experimental and Cognitive Psychology, Context (language use), Colorectal Neoplasms, Hereditary Nonpolyposis, Psychiatry and Mental health, Oncology, Vignette, Facilitator, medicine, Humans, Family, Genetic Testing, Thematic analysis, Psychology, Clinical psychology, Qualitative research, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e0804ad0d3347c35ee5d67c3b655b2Test
https://doi.org/10.1002/pon.5840Test -
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المؤلفون: Banu Arun, Rebecca S. S. Tidwell, Anne C. Kushwaha, Lilian E. Sweeney, Sukh Makhnoon, Susan K. Peterson, Rachel D. Bluebond
المصدر: Cancer
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Family Cancer History, Breast imaging, Genetic counseling, Breast Neoplasms, Genetic Counseling, Article, Breast cancer, Neoplastic Syndromes, Hereditary, Internal medicine, Humans, Medicine, Mammography, Breast, Family history, skin and connective tissue diseases, Early Detection of Cancer, Genetic testing, medicine.diagnostic_test, business.industry, Cancer, medicine.disease, Oncology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1592df53e43906da50679fc533026637Test
https://doi.org/10.1002/cncr.33866Test
