SUN-LB041 Clinical and Molecular Characteristics, Genotype-Phenotype Correlation in 113 Chinese Children with SRD5A2 Gene Mutations

ανά Fan, Lijun, Gong, Chunxiu
Τόπος έκδοσης J Endocr Soc (2019)

Central precocious puberty as a prelude of gonad dysplasia

ανά Li, Lele, Gong, Chunxiu
Τόπος έκδοσης Pediatr Investig (2019)

Clinical characteristics and imprinting analysis of Chinese Silver Russell Syndrome

ανά Wu, Di, Gong, Chunxiu, Zhao, Yang
Τόπος έκδοσης Int J Pediatr Endocrinol (2015)

Persistent Müllerian duct syndrome: A case report and review

ανά Ren, Xiaoya, Wu, Di, Gong, Chunxiu
Τόπος έκδοσης Exp Ther Med (2017)

Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

ανά Song, Yanning, Fan, Lijun, Gong, Chunxiu
Τόπος έκδοσης Front Pharmacol (2018)

Physical assessment and reference growth curves for children with 46, XY disorders of sex development

ανά Wu, Di, Chen, Hui, Gong, Chunxiu
Τόπος έκδοσης Pediatr Investig (2017)

Glucose fluctuations in association with oxidative stress among children with type 1 diabetes mellitus: comparison of different phases

ανά Meng, Xi, Gong, Chunxiu, Cao, Bingyan, Peng, Xiaoxia
Τόπος έκδοσης Int J Pediatr Endocrinol (2015)

Variant analysis of the chromodomain helicase DNA‐binding protein 7 in pediatric disorders of sex development

ανά Zhang, Beibei, Song, Yanning, Li, Wei, Gong, Chunxiu
Τόπος έκδοσης Pediatr Investig (2019)

Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

ανά Gong, Chunxiu, Li, Lele, Chen, Jiahui, Li, Wenjing
Τόπος έκδοσης Pediatr Investig (2019)

The clinical and molecular genetic study of 20 Silver Russell Syndrome cases

ανά Gong, Chunxiu, Zhu, Ming-Qiang, Wu, Di, Cao, Bingyan
Έκδοση 2013

Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases

ανά LI, WENJING, GONG, CHUNXIU, QI, ZHAN, WU, DI, CAO, BINGYAN
Τόπος έκδοσης Exp Ther Med (2015)

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children

ανά Fan, Lijun, Ren, Xiaoya, Song, Yanning, Su, Chang, Fu, Junfen, Gong, Chunxiu
Τόπος έκδοσης Orphanet J Rare Dis (2019)

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature

ανά Li, Lele, Su, Chang, Fan, Lijun, Gao, Fenqi, Liang, Xuejun, Gong, Chunxiu
Τόπος έκδοσης Orphanet J Rare Dis (2020)

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance

ανά Li, Lele, Gao, Fenqi, Fan, Lijun, Su, Chang, Liang, Xuejun, Gong, ChunXiu
Τόπος έκδοσης Front Endocrinol (Lausanne) (2020)

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

ανά Shangguan, Huakun, Su, Chang, Ouyang, Qian, Cao, Bingyan, Wang, Jian, Gong, Chunxiu, Chen, Ruimin
Τόπος έκδοσης Orphanet J Rare Dis (2019)

Validity of web‐based self‐assessment of pubertal development against pediatrician assessments

ανά Peng, Xiaoxia, Peng, Yaguang, Li, Yuchuan, Nie, Xiaolu, Gong, Chunxiu, Wu, Di, Ni, Xin
Τόπος έκδοσης Pediatr Investig (2018)

Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency

ανά Fan, Lijun, Song, Yanning, Polak, Michel, Li, Lele, Ren, Xiaoya, Zhang, Beibei, Wu, Di, Gong, Chunxiu
Τόπος έκδοσης Mol Genet Genomic Med (2020)

Association of change on insulin-like growth factor (IGF)-i and IGF-binding protein 3 with genetic markers after a month of growth hormone (GH) therapy on Chinese children born wit...

ανά Wang, Wei, Shen, Shuixian, Luo, Xiaoping, Gong, Chunxiu, Gu, Xuefan, Li, Yun, Minlian, Minlian, Jin, Minlian, Wu, Bin
Έκδοση 2013

Efficacy and safety of octreotide treatment for diazoxide‐unresponsive congenital hyperinsulinism in China

ανά Cao, Bingyan, Di, Wu, Su, Chang, Chen, Jiajia, Liang, Xuejun, Liu, Min, Li, Wenjing, Li, Xiaoqiao, Gong, Chunxiu
Τόπος έκδοσης Pediatr Investig (2020)

Clinical and genetic characteristics of hypophosphatasia in Chinese children

ανά Liu, Meijuan, Liu, Min, Liang, Xuejun, Wu, Di, Li, Wenjing, Su, Chang, Cao, Bingyan, Chen, Jiajia, Gong, Chunxiu
Τόπος έκδοσης Orphanet J Rare Dis (2021)