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1دورية أكاديمية
المؤلفون: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: ADAMTSL2, geleophysic dysplasia, Weill-Marchesani syndrome, acromelic dysplasias, missense mutation, microspherophakia, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Pauline Arnaud, Zakaria Mougin, Catherine Boileau, Carine Le Goff
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: ADAMTS, fibrillin-1, Marfan syndrome, acromelic dysplasias, extracellular matrix, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.734718/fullTest; https://doaj.org/toc/1664-8021Test
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3
المؤلفون: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
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, ADAMTSL2, geleophysic dysplasia, Weill-Marchesani syndrome, acromelic dysplasias, missense mutation, microspherophakia, lens subluxation, high myopia
الإتاحة: https://doi.org/10.3389/fgene.2022.1014188.s001Test
https://figshare.com/articles/dataset/DataSheet1_Case_report_A_homozygous_ADAMTSL2_missense_variant_causes_geleophysic_dysplasia_with_high_similarity_to_Weill-Marchesani_syndrome_PDF/21219461Test