F. Luo

发表

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Yang Liu, Xingping Li, Jiansheng Xie, 2018, BMC Medical Genetics.

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Qinghua Zhou, Peining Li, Jiansheng Xie, 2017, Molecular Cytogenetics.

A novel androgen receptor gene mutation in a Chinese patient with complete androgen insensitivity syndrome.

Weiqin Wu, Shun-chang Sun, F. Luo, 2010, European journal of obstetrics, gynecology, and reproductive biology.

Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Weiqin Wu, Qinghua Zhou, Peining Li, 2015, Molecular Cytogenetics.

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

Fang Xu, Peining Li, Zhi-yong Xu, 2014, Molecular Cytogenetics.

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

Hui Wang, Jiansheng Xie, Jianming Zhang, 2019, Journal of Human Genetics.

Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Weiqin Wu, Qinghua Zhou, Peining Li, 2015, Molecular Cytogenetics.

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

Fang Xu, Peining Li, Zhi-yong Xu, 2014, Molecular Cytogenetics.

[Karyotype analysis of chorionic villi from pregnant women with missed abortion using multiplex ligation-dependent probe amplification].

Jian-sheng Xie, Hua-kun Zhang, Q. Geng, 2009, Zhonghua fu chan ke za zhi.

A de novo Chromosomal Abnormality in Cri du Chat Syndrome

Hui-wen Song, Shun-chang Sun, F. Luo, 2014, The Indian Journal of Pediatrics.

Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

Yang Liu, Peining Li, Jiansheng Xie, 2022, Frontiers in Genetics.

[Analysis of fetal chromosomal karyotype and etiology in 252 cases of early spontaneous abortion].

Jiansheng Xie, Juan Li, Hua-kun Zhang, 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Weiqin Wu, Qinghua Zhou, Peining Li, 2017, European journal of medical genetics.

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Qinghua Zhou, Peining Li, Jiansheng Xie, 2017, Molecular Cytogenetics.

[Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].

Weiqin Wu, Zhi-yong Xu, Jiansheng Xie, 2015, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.