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1دورية أكاديمية
المؤلفون: Ibrahim Taha, Selena Foroni, Roberto Valli, Annalisa Frattini, Pamela Roccia, Giovanni Porta, Marco Zecca, Elena Bergami, Marco Cipolli, Francesco Pasquali, Cesare Danesino, Claudia Scotti, Antonella Minelli
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: Shwachman–Diamond syndrome, EIF6, SBDS, whole-exome sequencing, case report, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.896749/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Shanshan Lv, Jiao Zhao, Li Liu, Chun Wang, Hua Yue, Hao Zhang, Shanshan Li, Zhenlin Zhang
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: spondylo-epi-metaphyseal dysplasia, phenotype-genotype relation, TRPV4, COL2A1, CCN6, SBDS, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.960504/fullTest; https://doaj.org/toc/1664-8021Test