المؤلفون: Hiromoto K; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan., Yamada T; Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan., Tsuchiya M; Amicus Therapeutics K.K., Tokyo, Japan., Kawame H; Tohoku University Tohoku Medical Megabank Organization, Miyagi, Japan.; Department of Clinical Genetics, Jikei University, Tokyo, Japan., Nanba E; Organization for Research Initiative and Promotion, Tottori University, Tottori, Japan., Goto Y; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan., Kosugi S; Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.

المصدر: Congenital anomalies [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 116-124. Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing*/methods , Rare Diseases*/genetics , Rare Diseases*/diagnosis , Disclosure*, Humans ; Japan/epidemiology ; Surveys and Questionnaires ; Incidental Findings ; Germ-Line Mutation ; Female ; Male

المؤلفون: López-Martín E; Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain. elopez@isciii.es., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain. bmartinezd@isciii.es., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain. eva.bermejo@isciii.es., Alonso J; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain. fjalonso@isciii.es., Posada M; Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain. mposada@isciii.es.

مؤلفون مشاركون: SpainUDP Network

المصدر: International journal of environmental research and public health [Int J Environ Res Public Health] 2018 Aug 14; Vol. 15 (8). Date of Electronic Publication: 2018 Aug 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601 (Electronic) Linking ISSN: 16604601 NLM ISO Abbreviation: Int J Environ Res Public Health Subsets: MEDLINE

مواضيع طبية MeSH: National Health Programs/*organization & administration , Rare Diseases/*diagnosis, Genotype ; Humans ; Male ; Phenotype ; Spain ; Time-to-Treatment

المؤلفون: Estrella López-Martín, Beatriz Martínez-Delgado, Eva Bermejo-Sánchez, Javier Alonso, the SpainUDP Network, Manuel Posada

المساهمون: Instituto de Salud Carlos III

المصدر: International Journal of Environmental Research and Public Health, Vol 15, Iss 8, p 1746 (2018)
International Journal of Environmental Research and Public Health
Volume 15
Issue 8
Repisalud
Instituto de Salud Carlos III (ISCIII)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, diagnosis delay, Genotype, National Health Programs, Health, Toxicology and Mutagenesis, International data sharing, lcsh:Medicine, 030105 genetics & heredity, Article, phenotype ontologies, Time-to-Treatment, standardized phenotype, general_medical_research, Undiagnosed programs, 03 medical and health sciences, symbols.namesake, international data sharing, Human Phenotype Ontology, Humans, Medicine, Protocol (science), Sanger sequencing, International level, business.industry, Diagnosis delay, lcsh:R, whole exome analysis, Public Health, Environmental and Occupational Health, rare diseases, Genetic data, Standardized phenotype, Phenotype ontologies, medicine.disease, Rare diseases, 3. Good health, Data sharing, Phenotype, Spain, symbols, Whole exome analysis, Medical emergency, business, undiagnosed programs

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d94d540abda54e42f93b913770a088a
https://doi.org/10.3390/ijerph15081746