1. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Hermansky-Pudlak syndrome: Mutation update
2. Leibel, Rudolph L. 美国 Columbia University College of Physicians and Surgeons 1998美国医学院院士 FTO mediates cell-autonomous effects on adipogenesis and adipocyte lipid content by regulating gene ..
3. Mostafa A. El-Sayed 美国 Georgia Institute of Technology 1980美国科学院院士 Simultaneous Time-Dependent Surface-Enhanced Raman Spectroscopy, Metabolomics, and Proteomics Reveal..
4. Gunel, Murat 美国 Yale School of Medicine 2015美国医学院院士 A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
5. Leibel, Rudolph L. 美国 Columbia University College of Physicians and Surgeons 1998美国医学院院士 Hypomorphism of Fto and Rpgrip1l causes obesity in mice
6. Albert,De La Chapelle 美国 OHIO STATE University 1997美国科学院院士 A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma p..
7. O'Rahilly, Stephen 英国 University of Cambridge 2011美国科学院院士 Obesity and FTO: Changing Focus at a Complex Locus
8. Vincent R,Harley 澳大利亚 PRINCE HENRYS Institute Medicine Research A role for TRPC3 in mammalian testis development
9. Wit, Jan M. 荷兰 Leiden University Assessment of nutritional status in the diagnostic evaluation of the child with growth failure
10. Pietrobelli, Angelo 美国 Pennington Biomedical Research Center Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
11. Arthur S,Tischler 美国 Tufts University A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
12. Rainer,Oberbauer 奥地利 Medical University of Vienna A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
13. Po-Ru,Loh 美国 Harvard University A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
14. Peter J,Park 美国 Harvard University A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
15. Peter V,Kharchenko 美国 Harvard University A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
16. 曾小峰 中国 中国医学科学院 教授、主任医师 Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retr..
17. Riitta,Korpela 芬兰 University of Helsinki Adverse effects of an aldosterone synthase (CYP11B2) inhibitor, fadrozole (FAD286), on inflamed rat ..
18. Heikki,Vapaatalo 芬兰 University of Helsinki Adverse effects of an aldosterone synthase (CYP11B2) inhibitor, fadrozole (FAD286), on inflamed rat ..
19. Andrew H,Sinclair 澳大利亚 University of Melbourne FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination
20. Vincent R,Harley 澳大利亚 PRINCE HENRYS Institute Medicine Research FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination