1. James ,Rothman 美国 Yale University 1995美国医学院院士;1993美国科学院院士;2002拉斯克奖;2013诺贝尔生理学或医学奖 Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neu..
2. 金力 中国 复旦大学上海医学院 中国科学院院士 Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associa..
3. 乔杰 中国 北京大学 中国工程院院士 Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patie..
4. Pietrobelli, Angelo 美国 Pennington Biomedical Research Center Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
5. 李培峰 中国 青岛大学 The role of SLC12A family of cation-chloride cotransporters and drug discovery methodologies
6. Kerstin,Kutsche 德国 University Medical Center Hamburg-Eppendorf TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudi..
7. 马旭 中国 国家计划生育委员会 所长 Identification of deep intronic variants of PAH in phenylketonuria using full-length gene seq..
8. 马旭 中国 国家计划生育委员会 所长 The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketon..
9. Tadej,Battelino 斯洛文尼亚 University of Ljubljana Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slova..
10. Olaf,Hiort 德国 University of Lubeck Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
11. Wit, Jan M. 荷兰 Leiden University Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider o..
12. David,Zarkower 美国 University of Minnesota Genomics of sexual cell fate transdifferentiation in the mouse gonad
13. David,Zarkower 美国 University of Minnesota DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis
14. Shigeo,Kure 日本 Tohoku University Pathological variants in genes associated with disorders of sex development and central causes of hy..
15. Masayuki,Yamamoto 日本 Tohoku University Pathological variants in genes associated with disorders of sex development and central causes of hy..
16. Nobuo,Yaegashi 日本 Tohoku University Pathological variants in genes associated with disorders of sex development and central causes of hy..
17. Bachmann, Sebastian 德国 Charite Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
18. Ken,McElreavey 法国 Institute Pasteur Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings
19. Holger,Thiele 德国 University of Leipzig Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex developm..
20. Ulrich,Schweizer 德国 University of BONN Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex developm..