-
1دورية أكاديمية
المؤلفون: Fuying Song, Shunqiao Feng, Xiang Shen, Mu Du, Hui Yin, Rong Liu, Xiaobo Chen
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: combined disease symptoms, multi-system involved, congenital adrenal hyperplasia, hereditary spherocytosis, POR, ANK1, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00976/fullTest; https://doaj.org/toc/1664-8021Test
-
2
المؤلفون: Fuying Song, Shunqiao Feng, Rong Liu, Hui Yin, Mu Du, Xiaobo Chen, Xiang Shen
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: Antley–Bixler syndrome, lcsh:QH426-470, business.industry, Spherocytosis, Case Report, Disease, medicine.disease, Bioinformatics, ANK1, DNA sequencing, POR, Hereditary spherocytosis, lcsh:Genetics, multi-system involved, medicine, Genetics, Molecular Medicine, congenital adrenal hyperplasia, Congenital adrenal hyperplasia, hereditary spherocytosis, business, Gene, combined disease symptoms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a7518fda06bdb81d3e97e3ba58981d6Test
https://pubmed.ncbi.nlm.nih.gov/32973886Test -
3صورة
المؤلفون: Fuying Song, Shunqiao Feng, Xiang Shen, Mu Du, Hui Yin, Rong Liu, Xiaobo Chen
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, combined disease symptoms, multi-system involved, congenital adrenal hyperplasia, hereditary spherocytosis, POR, ANK1
الإتاحة: https://doi.org/10.3389/fgene.2020.00976.s001Test
https://figshare.com/articles/figure/Image_1_Next-Generation_Sequencing_Revealed_Disease-Causing_Variants_in_Two_Genes_in_a_Patient_With_Combined_Features_of_Spherocytosis_and_Antley-Bixler_Syndrome_With_Genital_Anomalies_and_Disordered_Steroidogenesis_pdf/12840983Test