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المؤلفون: Kosuke Shido, Kenshi Yamasaki, Atsushi Hatamochi, Saaya Yoshida-Akai, Kaname Kojima, Katsuko Kikuchi, Setsuya Aiba
المصدر: The Journal of Dermatology. 48:1918-1922
مصطلحات موضوعية: Genetics, Whole genome sequencing, Intron, Exons, Genomics, Dermatology, General Medicine, Gene mutation, Biology, Cohort Studies, genomic DNA, Exon, Collagen Type III, Statistical genetics, Complementary DNA, Mutation, Humans, Ehlers-Danlos Syndrome, Female, Collagen, Leiden Open Variation Database
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المؤلفون: Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher
المساهمون: Institut Català de la Salut, [Ben Aim L] Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. [Maher ER] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. [Cascon A] Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. [Barlier A] Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. [Giraud S] Department of Genetics, Hospices Civils de Lyon, Bron, France. [Ercolino T] Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. [Toledo RA] CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Maher, Eamonn R [0000-0002-6226-6918], Pigny, Pascal [0000-0003-3926-4487], Bayley, Jean Pierre [0000-0002-8288-0050], Burnichon, Nelly [0000-0001-7972-5845], Apollo - University of Cambridge Repository
المصدر: Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Geneticsمصطلحات موضوعية: medicine.medical_specialty, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma [DISEASES], databases, SDHB, Adrenal Gland Neoplasms, human genetics, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma [DISEASES], Context (language use), adrenal gland diseases, Pheochromocytoma, computer.software_genre, Glàndules suprarenals - Malalties - Aspectes genètics, genetic testing, Paraganglioma, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma [ENFERMEDADES], Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Genetics, medicine, Humans, Cancer genetics, Genetics (clinical), Germ-Line Mutation, Genetic testing, Hereditary Paraganglioma, Database, medicine.diagnostic_test, neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales [ENFERMEDADES], business.industry, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma [ENFERMEDADES], Cromosomes humans - Anomalies - Diagnòstic, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], medicine.disease, Human genetics, Succinate Dehydrogenase, genetic variation, Medical genetics, genetic, Leiden Open Variation Database, business, Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms [DISEASES], computer, Tumors neuroendocrins - Aspectes genètics
وصف الملف: application/pdf; text/xml
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696 -
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المؤلفون: Yahya Mohzari, Mushira Enani, Asma S. Albujaidya, Bandar Alosaimi, Nada M. Alkhani, Ahmed A. Alrashed, Mona A. Alanazi, Amal Ben-Akresh, Ahmad Alamer, Tahir Mehmood Khan, Syed Mohammed Basheeruddin Asdaq, Ivo Abraham, Malak Almutairi, Wafa Alfahad, Maram M. Alghalbi, Noara Alhusseini
المصدر: Journal of Infection and Public Health, Vol 14, Iss 6, Pp 726-733 (2021)
Journal of Infection and Public Healthمصطلحات موضوعية: 0301 basic medicine, Angiotensin-Converting Enzyme Inhibitors, Disease, Infectious and parasitic diseases, RC109-216, Logistic regression, MOH, Ministry of Health, law.invention, IPSW, Inverse propensity score weighting, 0302 clinical medicine, law, ACEI, Angiotensin-converting enzyme inhibitors, RAAS, Renin-angiotensin-aldosterone system, 030212 general & internal medicine, Confounding, General Medicine, Intensive care unit, Hospitals, ICU, Intensive care unit, Infectious Diseases, MV, Mechanical ventilation, ARB, Angiotensin receptor blockers, SARS-CoV-2, Severe acute respiratory syndrome coronavirus, Public aspects of medicine, RA1-1270, medicine.medical_specialty, COVID-19, Coronavirus disease,2019, Referral, 030106 microbiology, NIV, Non-invasive ventilation, Saudi Arabia, LOVD, Leiden open variation database, Article, WHO, World Health Organization, Angiotensin Receptor Antagonists, 03 medical and health sciences, Internal medicine, Diabetes mellitus, medicine, Humans, cardiovascular diseases, Mortality, Disease severity, Retrospective Studies, SARS-CoV-2, business.industry, Public Health, Environmental and Occupational Health, COVID-19, Retrospective cohort study, PSM, Propensity score matching, medicine.disease, Hospital admission, Angiotensin-converting enzyme inhibitor, Propensity score matching, Angiotensin II receptor blocker, business, OR, Odds ratio, RT-PCR, Real-time polymerase chain reaction (RT-PCR)
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المؤلفون: Olivier Vanakker, Paul Coucke, Shana Verschuere, Nastassia Navassiolava, Pasi I. Nevalainen, Ludovic Martin
المصدر: Genetics in Medicine. 23:131-139
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Molecular pathology, ABCC6, Genomics, Biology, Pseudoxanthoma elasticum, medicine.disease, Human genetics, biology.protein, medicine, Missense mutation, Medical genetics, Leiden Open Variation Database, Genetics (clinical)
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المؤلفون: Uzma Shamim, Shantanu Sengupta, Pooja Sharma, Binuja Varma, Vandana Jain, Mohammed Faruq, Sana Zahra, Sara L. Hillman, Khushboo Singhal, Archana Vats, Padma Dolma, Asokachandran Vivekanand, Mitali Mukerji, Aradhana Mathur, Arti Yadav, Ankita Narang, Salwa Naushin, Bhavana Prasher, Bharathram Uppilli, Shaista Parveen, Malika Seth
المصدر: Human Mutation. 41:1833-1847
مصطلحات موضوعية: Genetic Markers, 0303 health sciences, Resource (biology), Genotype, 030305 genetics & heredity, Ethnic group, India, Genomics, Biology, Cohort Studies, 03 medical and health sciences, Genetics, Population, Phenotype, Evolutionary biology, Cohort, Ethnicity, Genetics, Humans, 1000 Genomes Project, Leiden Open Variation Database, Genotyping, Genetics (clinical), 030304 developmental biology
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المؤلفون: Yue Zhang, Naichao Wu, Boyan Zhang, Jincheng Wang, Jianing Li, He Liu
المصدر: Clinical Genetics. 97:383-395
مصطلحات موضوعية: Male, musculoskeletal diseases, 0301 basic medicine, Proband, Genotype, Type II collagen, macromolecular substances, 030105 genetics & heredity, Biology, Osteochondrodysplasias, medicine.disease_cause, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, Genetic Testing, Collagen Type II, Genetic Association Studies, Genetics (clinical), Genetic testing, Mutation, medicine.diagnostic_test, Genetic Variation, musculoskeletal system, Phenotype, Clinical Practice, 030104 developmental biology, Etiology, Female, Leiden Open Variation Database
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المؤلفون: Li Zhang, Baosheng Zhu, Xiaoling Guo, Shanhuo Yan, Chonglin Zhang, Xinhua Zhang, Ming Qi, Dianyu Chen, Qianqian Zhang, Biyan Chen, Jianmei Zhong, Hongmei Ding, Yan Chen, Shaoke Chen, Yuqiu Zhou, Xiarong Li, Wangwei Cai, Xuan Shang, Xuanzhu Liu, Chen Shiping, Yuhua Ye, Ren Cai, Yajun Chen, Jie Zou, Yan-Hui Liu, Yuehong Zhou, Xiangmin Xu, Peikuan Cong, Yaohua Tang
المصدر: Human Mutation
مصطلحات موضوعية: China, Genetic counseling, Biology, Quantitative trait locus, computer.software_genre, Risk Assessment, LOVD, clinical genotyping, Databases, 03 medical and health sciences, Databases, Genetic, Dash, Genetics, medicine, Humans, hemoglobinopathy, Genetic Predisposition to Disease, Genotyping, Genetic Association Studies, database, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Molecular screening, Database, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, DASH, medicine.disease, Hemoglobinopathies, Hemoglobinopathy, Mutation, molecular screening, Mutation (genetic algorithm), Female, Leiden Open Variation Database, computer
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المؤلفون: Athanasios Papathanasiou, Paraskevi Apostolou, Eleni Drosopoulou, Irene Konstantopoulou, Ioannis S. Vlachos, Drakoulis Yannoukakos, Despoina Kalfakakou, Zacharias G. Scouras, Vasiliki Dellatola, Florentia Fostira, Ioanna E. Gavra
مصطلحات موضوعية: education.field_of_study, Greece, Population, Genetic Variation, Phenotypic trait, Biology, Genealogy, Schema (genetic algorithms), Geography, Variation (linguistics), Gene Frequency, Neoplasms, Genetic variation, Genetics, Humans, Genetic Predisposition to Disease, Family history, education, Leiden Open Variation Database, Allele frequency, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07144a20b96e9fabbce2b58269e395da
https://doi.org/10.22541/au.161674688.85580897/v2 -
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المؤلفون: Qingfeng Wang, Peizeng Yang, Guannan Su, Jing Deng, Shenglan Yi, Liping Du, Shengping Hou, Xinyue Huang, Xiao Tan, Aize Kijlstra, Meng Lv
المساهمون: RS: MHeNs - R3 - Neuroscience, MUMC+: MA UECM Oogartsen MUMC (9)
المصدر: Human Mutation
Human Mutation, 40(3), 258-266. Wileyمصطلحات موضوعية: dbSNP, PROMOTER, TNF, Single-nucleotide polymorphism, autoimmune disease, Human leukocyte antigen, Disease, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Autoimmune Diseases, Arthritis, Rheumatoid, 03 medical and health sciences, User-Computer Interface, Databases, single nucleotide polymorphism, Databases, Genetic, Genetics, Genetic predisposition, medicine, Ethnicity, Humans, Genetic Predisposition to Disease, Genetics (clinical), Genetic Association Studies, database, POLYMORPHISMS, 030304 developmental biology, 0303 health sciences, BEHCETS-DISEASE, Behcet Syndrome, 030305 genetics & heredity, medicine.disease, eye diseases, immune system pathways, Variome, uveitis, Leiden Open Variation Database, Uveomeningoencephalitic Syndrome, Uveitis, Signal Transduction
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المؤلفون: David Neil Cooper, Katsushi Tokunaga, Teri E. Klein, Karen E. Weck, Adya Misra, Johan T. den Dunnen, Kay E. Davies, Greg Barsh, Raymond Dalgleish, Sarah Ratzel, Huw Dorkins, Sara B. Cullinan, Jan Higgins, Heidi L. Rehm, Garry R. Cutting, Juergen K. V. Reichardt, Issei Imoto, Peter Freeman, Bruce R. Korf, Li Gong, Mark H. Paalman
المصدر: Human Mutation: Variation, Informatics and Disease, 42(1), 3-7. WILEY
Higgins, J, Dalgleish, R, den Dunnen, J T, Barsh, G, Freeman, P J, Cooper, D N, Cullinan, S, Davies, K E, Dorkins, H, Gong, L, Imoto, I, Klein, T E, Korf, B, Misra, A, Paalman, M H, Ratzel, S, Reichardt, J K V, Rehm, H L, Tokunaga, K, Weck, K E & Cutting, G R 2020, ' Verifying Nomenclature of DNA Variants in Submitted Manuscripts : Guidance for Journals ', Human Mutation, vol. 42, no. 1, pp. 3-7 . https://doi.org/10.1002/humu.24144
Hum Mutatمصطلحات موضوعية: Human Genome Variation Society, Leiden Open Variation Database, Human Variome Project, Pilot Projects, DNA variants, Computational biology, Dna variants, Biology, Genome, Article, 03 medical and health sciences, Terminology as Topic, Human Genome Project, Genetics, Humans, Clinical care, Nomenclature, Genetics (clinical), Human Genome Variation Society nomenclature, 030304 developmental biology, 0303 health sciences, Genome, Human, Publications, 030305 genetics & heredity, Genetic Variation, ClinVar, DNA, Variation (linguistics), Periodicals as Topic
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