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1دورية أكاديمية
المؤلفون: Céline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek, Houda Ali, Sylvie Maiella, Annie Olry, Anne-Sophie Jannot, Ana Rath
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Rare diseases, Undiagnosed patients, Coding, ORPHAcodes, Health information systems, Diagnosis, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: whole-genome sequencing, first tier, diagnostic yield, undiagnosed patients, pediatric geneticist, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1347474/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المصدر: Indian Journal Of Clinical Practice; Vol. 34 No. 11 (2024); 10-14 ; 0971-0876
مصطلحات موضوعية: Handheld ECG device, ECG abnormalities, undiagnosed patients, Agatsa SanketLife Pro Plus
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Manuela Priolo, Marco Tartaglia
المصدر: International Journal of Environmental Research and Public Health; Volume 20; Issue 5; Pages: 4573
مصطلحات موضوعية: rare diseases, diagnosis, physician-patient relationship, diagnostic odyssey, diagnostic delay, orphan diseases, undiagnosed patients
جغرافية الموضوع: agris
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Alexandra Berger, Anne-Kathrin Rustemeier, Jens Göbel, Dennis Kadioglu, Vanessa Britz, Katharina Schubert, Klaus Mohnike, Holger Storf, Thomas O. F. Wagner
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
مصطلحات موضوعية: Registry, Undiagnosed patients, Rare diseases, HPO, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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6
المؤلفون: Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, whole-genome sequencing, first tier, diagnostic yield, undiagnosed patients, pediatric geneticist
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7دورية أكاديمية
المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
مصطلحات موضوعية: small GTPases, rare diseases, undiagnosed patients, next generation sequencing, in vivo models, zebrafish, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2021.642235/fullTest; https://doaj.org/toc/2296-634XTest
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8دورية أكاديمية
المؤلفون: F. Clementina Radio, Massimiliano Ruzzeddu, Andrea Bartuli, Antonio Novelli, Marco Tartaglia, Bruno Dallapiccola
المصدر: New Genetics and Society, Vol 38, Iss 3, Pp 249-263 (2019)
مصطلحات موضوعية: exome sequencing, undiagnosed patients, rare diseases, diagnosis, health policy, cost-effectiveness, doctor-patient relationship, Genetics, QH426-470, Medical philosophy. Medical ethics, R723-726
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Evie Kritioti (11204265), Athina Theodosiou (3629132), Thibaud Parpaite (11204268), Angelos Alexandrou (5824322), Nayia Nicolaou (11204271), Ioannis Papaevripidou (5824325), Nina Séjourné (11204274), Bertrand Coste (11204277), Violetta Christophidou-Anastasiadou (3629141), George A. Tanteles (9315770), Carolina Sismani (3601283)
مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, SPR, G-banding karyotype analysis, 2A, CNOT, SNV, UBE, KAT, PXDN, 3A, HECW, PIEZO, array-CGH, AGTPBP, GAMT, TFAP, KDM, POMGNT, exome sequencing study, PHIP, 6A, undiagnosed patients, MMS, Cypriot population Multiple malform.
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10دورية أكاديمية
المؤلفون: Evie Kritioti (11204265), Athina Theodosiou (3629132), Thibaud Parpaite (11204268), Angelos Alexandrou (5824322), Nayia Nicolaou (11204271), Ioannis Papaevripidou (5824325), Nina Séjourné (11204274), Bertrand Coste (11204277), Violetta Christophidou-Anastasiadou (3629141), George A. Tanteles (9315770), Carolina Sismani (3601283)
مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, SPR, G-banding karyotype analysis, 2A, CNOT, SNV, UBE, KAT, PXDN, 3A, HECW, PIEZO, array-CGH, AGTPBP, GAMT, TFAP, KDM, POMGNT, exome sequencing study, PHIP, 6A, undiagnosed patients, MMS, Cypriot population Multiple malform.