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1دورية أكاديمية
المؤلفون: Katalin Komlósi, Attila Gyenesei, Judit Bene
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: copy number variation (CNV), rare disorders, genomic disorders, Mendelian disease, genomic rearrangement, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.898059/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: prenatal and pediatric diagnosis, chromosomal abnormalities, recurrent genomic disorders, microdeletions and microduplications, pathogenic copy number variants, abnormality detection rate, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.01162/fullTest; https://doaj.org/toc/1664-8021Test
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3
المؤلفون: Brittany Grommisch, Michele Spencer-Manzon, Qinghua Zhou, Peining Li, James L. McGrath, Allen E. Bale, Hongyan Chai, Maurice J. Mahoney, Jiadi Wen, Fang Xu, Hui Zhang, Autumn DiAdamo
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Down syndrome, pathogenic copy number variants, lcsh:QH426-470, Population, 03 medical and health sciences, 0302 clinical medicine, microdeletions and microduplications, DiGeorge syndrome, Turner syndrome, Genetics, medicine, diagnostic accuracy and efficacy, Copy-number variation, prenatal and pediatric diagnosis, education, Genetics (clinical), Original Research, Fetus, education.field_of_study, medicine.diagnostic_test, business.industry, recurrent genomic disorders, medicine.disease, relative frequency, lcsh:Genetics, chromosomal abnormalities, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, abnormality detection rate, business, Fluorescence in situ hybridization, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a0e89ec6d6e5493ca4359bb6826d1eTest
https://doi.org/10.3389/fgene.2019.01162Test