Rongyu Chen

发表

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Molecular and Cellular Endocrinology.

Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.

Shaoke Chen, Jingsi Luo, C. Fu, 2014, Arquivos brasileiros de endocrinologia e metabologia.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3) The made this article openly available. Please share how this access benefits you. Your story matters

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015 .

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

Yiping Shen, Xuyun Hu, Shaoke Chen, 2014, Molecular Cytogenetics.

Hb H Hydrops Fetalis Syndrome Caused by Association of the − −SEA Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family

Xiao-Xian Tian, Shaoke Chen, Qiang Zhang, 2015, Hemoglobin.

Deletion and Hb Constant Spring (HBA2: c.427T4C) Mutation in a Chinese Family

Xiao-Xian Tian, Shaoke Chen, Qiang Zhang, 2015 .

A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Gene.

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Clinica chimica acta; international journal of clinical chemistry.

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Clinica chimica acta; international journal of clinical chemistry.

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Xuefan Gu, Xuyun Hu, Shaoke Chen, 2016, BMJ Open.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015, Archives of endocrinology and metabolism.

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2015, Clinica chimica acta; international journal of clinical chemistry.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

[ASS1 gene mutation in a neonate with citrullinemia type I].

Shaoke Chen, Jingsi Luo, B. Xie, 2014, Zhonghua er ke za zhi = Chinese journal of pediatrics.

de novo interstitial deletions at the 11q23.3-q24.2 region

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

Yiping Shen, Shaoke Chen, Jingsi Luo, 2015, BMC Medical Genetics.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

Yiping Shen, X. Fan, H. Zheng, 2015, Journal of Endocrinological Investigation.

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2017, Clinica chimica acta; international journal of clinical chemistry.

[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation].

Xuyun Hu, Shaoke Chen, S. Luo, 2017, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.