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. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
3. 李兆申 中国 海军军医大学 中国工程院院士 Severe reflux esophagitis and multiple congenital defects A case report
4. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Phenotypic expansion of POGZ-related intellectual disability syndrome[White-Sutton syndrome]
5. Pietrobelli, Angelo 美国 Pennington Biomedical Research Center Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
6. 李培峰 中国 青岛大学 The role of SLC12A family of cation-chloride cotransporters and drug discovery methodologies
7. Kerstin,Kutsche 德国 University Medical Center Hamburg-Eppendorf TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudi..
8. 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..
9. Bertini, Enrico Silvio 意大利 IRCCS Ospedale Pediatrico Bambino Gesù Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: s..
10. Marco,Tartaglia 意大利 Ospedale PEDIAT BAMBINO GESU Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: s..
11. Bruno,Dallapiccola 意大利 Bambino Gesu Children's Hospital Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: s..
12. 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..
13. Wit, Jan M. 荷兰 Leiden University Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider o..
14. Bachmann, Sebastian 德国 Charite Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
15. Julie D,Forman-Kay 加拿大 University of Toronto A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
16. Thomas W,Frazier 美国 Center Autism A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
17. Peter,Szatmari 加拿大 University of Toronto A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
18. Thomas,Bourgeron 法国 Institute Pasteur A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
19. Stephen W,Scherer 加拿大 University of Toronto A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
20. Haruhiko,Sugimura 日本 Hamamatsu University School of Medicine Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability ..