المؤلفون: Jianlong Zhuang, Na Zhang, Junyu Wang, Yuying Jiang, Hegan Zhang, Chunnuan Chen

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)

مصطلحات موضوعية: 14q32.31q32.33 microduplication, 17q25.3 microduplication, 20q13.33 microdeletion, chromosomal microarray analysis, copy number variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/ce51793ffaff4c2fb1e50ec987e5c2a9

المؤلفون: Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)

مصطلحات موضوعية: chromosomal microarray analysis, Ellis‐van Creveld syndrome, EVC2, prenatal diagnosis, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/a1d314ae38544097b1dc78ac76fa0c6d

المؤلفون: Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie, Gaoxiong Wang

المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Partial trisomy 13q, Karyotype analysis, SNP array, Seizures, Developmental delay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/b51de13cba9143fbadb97307ac1406d4

المؤلفون: Jianlong Zhuang, Na Zhang, Yuanbai Wang, Hegan Zhang, Yu Zheng, Yuying Jiang, Yingjun Xie, Dongmei Chen

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: thalassemia, hemoglobinopathy, molecular spectrum, DNA sequencing, Southeast China, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.727233/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c56a74324be4458789865cf4624f67a4