Li J - Search Results

1

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: li j. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250

2

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.

Li J, Xie H, Jiang Y. Li J, et al. BMC Med Genet. 2018 Apr 2;19(1):51. doi: 10.1186/s12881-018-0562-4. BMC Med Genet. 2018. PMID: 29606097 Free PMC article.

3

Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.

Li J, Gao K, Yan H, Xiangwei W, Liu N, Wang T, Xu H, Lin Z, Xie H, Wang J, Wu Y, Jiang Y. Li J, et al. Gene. 2019 Jun 5;700:168-175. doi: 10.1016/j.gene.2019.03.037. Epub 2019 Mar 21. Gene. 2019. PMID: 30904718

4

Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

Li J, Gao K, Cai S, Liu Y, Wang Y, Huang S, Zha J, Hu W, Yu S, Yang Z, Xie H, Yan H, Wang J, Wu Y, Jiang Y. Li J, et al. Sci Rep. 2019 Nov 29;9(1):17909. doi: 10.1038/s41598-019-53484-9. Sci Rep. 2019. PMID: 31784560 Free PMC article.

5

De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.

Cai S, Li J, Wu Y, Jiang Y. Cai S, et al. Among authors: li j. J Hum Genet. 2020 Jul;65(7):601-608. doi: 10.1038/s10038-020-0739-5. Epub 2020 Mar 16. J Hum Genet. 2020. PMID: 32203252

6

ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features.

Lin Z, Li J, Ji T, Wu Y, Gao K, Jiang Y. Lin Z, et al. Among authors: li j. Front Pediatr. 2021 Apr 21;9:657256. doi: 10.3389/fped.2021.657256. eCollection 2021. Front Pediatr. 2021. PMID: 33968856 Free PMC article.

7

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.

Zeng Q, Yang Y, Duan J, Niu X, Chen Y, Wang D, Zhang J, Chen J, Yang X, Li J, Yang Z, Jiang Y, Liao J, Zhang Y. Zeng Q, et al. Among authors: li j. Front Mol Neurosci. 2022 Mar 30;15:809951. doi: 10.3389/fnmol.2022.809951. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35431799 Free PMC article.

8

De novo CLPTM1 variants with reduced GABA_A R current response in patients with epilepsy.

Liu N, Li J, Gao K, Perszyk RE, Zhang J, Wang J, Wu Y, Jenkins A, Yuan H, Traynelis SF, Jiang Y. Liu N, et al. Among authors: li j. Epilepsia. 2023 Nov;64(11):2968-2981. doi: 10.1111/epi.17746. Epub 2023 Aug 30. Epilepsia. 2023. PMID: 37577761 Free PMC article.

9

De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.

Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y. Xie H, et al. Among authors: li j. Epilepsy Res. 2019 Aug;154:55-61. doi: 10.1016/j.eplepsyres.2019.04.005. Epub 2019 Apr 22. Epilepsy Res. 2019. PMID: 31054517

10

Rapid and supersensitive allele detection of Plasmodium falciparum chloroquine resistance via a Pyrococcus furiosus argonaute-triggered dual-signal biosensing platform.

Chen L, Chen W, Wei H, Lin W, Zhang C, Hu H, Wang C, Chen J, Liang X, Zhu D, Wang J, Lin Z, Wei Y, Li J, Lin M. Chen L, et al. Among authors: li j. Parasit Vectors. 2024 Nov 24;17(1):488. doi: 10.1186/s13071-024-06575-0. Parasit Vectors. 2024. PMID: 39582041 Free article.

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