G. Chang

发表

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Jian Wang, Niu Li, Xiumin Wang, 2019, Clinical genetics.

Skeletal muscle-specific Sidt2 knockout in mice induced muscular dystrophy-like phenotype.

Lei Zhao, Xihua Li, Xueru Chen, 2018, Metabolism: clinical and experimental.

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

Jian Wang, Niu Li, Yu Ding, 2022, BMC Endocrine Disorders.

Diagnosis of Patients with Mucopolysaccharidosis Type II via RNA Sequencing.

Niu Li, Xiumin Wang, Xin Li, 2022, Clinica chimica acta; international journal of clinical chemistry.

SIDT2 is involved in the NAADP-mediated release of calcium from insulin secretory granules.

Xuefan Gu, Yanan Cao, Ruixu Yang, 2016, Journal of molecular endocrinology.

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

Jian Wang, Yufei Xu, Xiumin Wang, 2020, Scientific Reports.

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Jian Wang, Niu Li, Xiumin Wang, 2019, Clinical genetics.

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure

Yiping Shen, Tingting Yu, Jian Wang, 2018, Molecular and Cellular Endocrinology.

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature

Jian Wang, Niu Li, Xiumin Wang, 2021, The Journal of clinical endocrinology and metabolism.

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Yiping Shen, Tingting Yu, Jian Wang, 2018, Orphanet Journal of Rare Diseases.

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Yiping Shen, Yu Ding, Tingting Yu, 2017, International journal of molecular sciences.

Obesity and developmental delay in a patient with uniparental disomy of chromosome 2

J. Li, Y. Chen, G. Chang, 2016, International Journal of Obesity.

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS

Yiping Shen, Jian Wang, Niu Li, 2018, Fetal and pediatric pathology.

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia

Jian Wang, Niu Li, F. Jiang, 2020, Journal of diabetes investigation.

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

Tingting Yu, Jian Wang, Niu Li, 2021, BMC medical genomics.

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

Xin Li, Niu Li, Xiumin Wang, 2023, Frontiers in Endocrinology.

[Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases].

Jian Wang, Yu Ding, Juan Li, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients

Jian Wang, Qian Li, L. Fu, 2022, Frontiers in Genetics.

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth

B. Feng, Jian Wang, Xin Li, 2022, Molecular genetics & genomic medicine.

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature

Yiping Shen, Tingting Yu, Jian Wang, 2017, American journal of medical genetics. Part A.

A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

B. Feng, Jian Wang, Xin Li, 2021, BMC medical genomics.

Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China

Jian Wang, Yu Ding, G. Chang, 2023, BMC Pediatrics.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

B. Feng, Xin Li, Niu Li, 2023, Orphanet Journal of Rare Diseases.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

F. Alkuraya, M. Bekheirnia, Tingting Yu, 2023, EBioMedicine.

A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review

Tingting Yu, Yu Ding, G. Chang, 2024, Medicine.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

Tingting Yu, Yu Ding, G. Chang, 2024, Orphanet journal of rare diseases.

G. Chang, Xiumin Wang, Qianwen Zhang, 2024, International journal of molecular sciences.