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Journal of Medical Genetics
|
June 13, 2019
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of <i>SRD5A2</i> in 190 Chinese patients
Baoheng Gui, Yanning Song, Zhe Su, et al.
Gene
|
September 5, 2016
A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33
Jin Wang, Chunyun Fu, Shujie Zhang, et al.
Orphanet Journal of Rare Diseases
|
June 16, 2019
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
Shujie Zhang, Shaoke Chen, Haisong Qin, et al.
Molecular Genetics and Metabolism Reports
|
July 11, 2018
Novel <i>ETFDH</i> mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
Xin Fan, Bobo Xie, Jun Zou, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 18, 2017
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism
Chunyun Fu, Shiyu Luo, Xigui Long, et al.
Endocrine Connections
|
October 28, 2017
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH
Chunyun Fu, Shiyu Luo, Yingfeng Li, et al.
Scientific Reports
|
July 26, 2019
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases
Dahua Meng, Qifei Li, Xuehua Hu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 13, 2015
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism
Chunyun Fu, Rongyu Chen, Shujie Zhang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 18, 2016
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients
Chunyun Fu, Jin Wang, Shiyu Luo, et al.
Molecular and Cellular Endocrinology
|
January 19, 2016
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism
Xuyun Hu, Rongyu Chen, Chunyun Fu, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 80) with videos related to
Sort By:
Page
of 8
Journal of Medical Genetics
|
June 13, 2019
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of <i>SRD5A2</i> in 190 Chinese patients
Baoheng Gui, Yanning Song, Zhe Su, et al.
Gene
|
September 5, 2016
A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33
Jin Wang, Chunyun Fu, Shujie Zhang, et al.
Orphanet Journal of Rare Diseases
|
June 16, 2019
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
Shujie Zhang, Shaoke Chen, Haisong Qin, et al.
Molecular Genetics and Metabolism Reports
|
July 11, 2018
Novel <i>ETFDH</i> mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
Xin Fan, Bobo Xie, Jun Zou, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 18, 2017
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism
Chunyun Fu, Shiyu Luo, Xigui Long, et al.
Endocrine Connections
|
October 28, 2017
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH
Chunyun Fu, Shiyu Luo, Yingfeng Li, et al.
Scientific Reports
|
July 26, 2019
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases
Dahua Meng, Qifei Li, Xuehua Hu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 13, 2015
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism
Chunyun Fu, Rongyu Chen, Shujie Zhang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 18, 2016
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients
Chunyun Fu, Jin Wang, Shiyu Luo, et al.
Molecular and Cellular Endocrinology
|
January 19, 2016
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism
Xuyun Hu, Rongyu Chen, Chunyun Fu, et al.
Page
of 8