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. 宁光 中国 上海交通大学医学院 中国工程院院士 Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hy..
4. Chung, Wendy K. 美国 Columbia University 2020美国医学院院士 Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical d..
5. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical d..
6. Rachel Klevit 美国 University of Washington 2021美国科学院院士 Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability
7. 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..
8. Lisenka E. L. M,Vissers 荷兰 Radboud University Nijmegen Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a s..
9. Pietrobelli, Angelo 美国 Pennington Biomedical Research Center Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
10. 李培峰 中国 青岛大学 The role of SLC12A family of cation-chloride cotransporters and drug discovery methodologies
11. Kerstin,Kutsche 德国 University Medical Center Hamburg-Eppendorf TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudi..
12. Olaf,Hiort 德国 University of Lubeck Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
13. Wit, Jan M. 荷兰 Leiden University Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider o..
14. David,Zarkower 美国 University of Minnesota Genomics of sexual cell fate transdifferentiation in the mouse gonad
15. David,Zarkower 美国 University of Minnesota DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis
16. Roberto,Giugliani 巴西 University of Federal Rio Grande do Sul Sanfilippo syndrome: consensus guidelines for clinical care
17. Joseph,Muenzer 美国 University of North Carolina Sanfilippo syndrome: consensus guidelines for clinical care
18. Shigeo,Kure 日本 Tohoku University Pathological variants in genes associated with disorders of sex development and central causes of hy..
19. Masayuki,Yamamoto 日本 Tohoku University Pathological variants in genes associated with disorders of sex development and central causes of hy..
20. Nobuo,Yaegashi 日本 Tohoku University Pathological variants in genes associated with disorders of sex development and central causes of hy..