1. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the m..
2. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seiz..
3. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and devel..
4. Mandl, Kenneth D. 美国 Harvard University 2021美国医学院院士 Nonlinear Analysis of Visually Normal EEGs to Differentiate Benign Childhood Epilepsy with Centrotem..
5. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant iden..
6. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Aki..
7. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker o..
8. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosyl..
9. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality..
10. Kinoshita, Taroh 日本 Osaka University 2025美国科学院院士 Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encep..
11. Johannes,Sarnthein 瑞士 University of ZURICH Scalp high-frequency oscillation spatial distribution is consistent over consecutive nights, while r..
12. Renzo,Guerrini 意大利 University of Florence Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and u..
13. Renzo,Guerrini 意大利 University of Florence Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spe..
14. Maurizio,Taglialatela 意大利 University of Naples Federico II Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2- developmental encephalop..
15. Fabio,Benfenati 意大利 University of Genoa Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2- developmental encephalop..
16. Ingrid E,Scheffer 澳大利亚 University of Melbourne Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2- developmental encephalop..
17. 詹华强 中国 香港科技大学 Aflatoxin B1-induced liver pyroptosis is mediated by disturbing the gut microbial metabolites: The r..
18. Cheng, Jianlin 美国 University of Missouri Biochemical, structural, and computational analyses of two new clinically identified missense mutati..
19. Tanner, John J. 美国 University of Missouri Biochemical, structural, and computational analyses of two new clinically identified missense mutati..
20. Ruecker, Gerta 德国 University of Freiburg Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Sp..