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Molecular Cytogenetics|August 26, 2016
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disabilityShujie Zhang, Haisong Qin, Jin Wang, et al.
Molecular Cytogenetics|December 13, 2019
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literatureJiasun Su, Huayu Fu, Bobo Xie, et al.
Journal of Thrombosis and Haemostasis : JTH|September 11, 2024
Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in ChinaMeizhen Shi, Yunting Ma, Xianwei Peng, et al.
BMJ Open|May 14, 2016
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidismChunyun Fu, Bobo Xie, Shujie Zhang, et al.
Molecular Medicine Reports|January 19, 2018
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1Qi Yang, Hong Xu, Jinsi Luo, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 5, 2020
[Clinical practice guidelines for Prader-Willi syndrome]Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Chuan Li, Bobo Xie, et al.
Frontiers in Genetics|December 12, 2022
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndromeMeizhen Shi, Yuying Liang, Bobo Xie, et al.
Scientific Reports|January 18, 2018
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonatesChunyun Fu, Shiyu Luo, Qifei Li, et al.
Archives of Endocrinology and Metabolism|February 18, 2016
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidismChunyun Fu, Haiyang Zheng, Shujie Zhang, et al.
Human Genomics|September 16, 2024
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mappingYunting Ma, Chunrong Gui, Meizhen Shi, et al.
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