He S - Search Results

1

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H. Prokudin I, et al. Among authors: he s. Clin Exp Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2. Clin Exp Ophthalmol. 2015. PMID: 25060287

2

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Almoguera B, et al. Among authors: he s. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. Orphanet J Rare Dis. 2014. PMID: 25491489 Free PMC article.

3

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Zulfiqar S, Tariq M, Ali Z, Fatima A, Klar J, Abdullah U, Ali A, Ramzan S, He S, Zhang J, Khan A, Shah S, Khan S, Makhdoom EH, Schuster J, Dahl N, Baig SM. Zulfiqar S, et al. Among authors: he s. J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4. J Clin Neurosci. 2019. PMID: 31281085

4

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y, Tariq M, He S, Abdullah U, Zhang J, Baig SM. Zhou Y, et al. Among authors: he s. BMC Med Genet. 2020 Jul 18;21(1):151. doi: 10.1186/s12881-020-01087-x. BMC Med Genet. 2020. PMID: 32682410 Free PMC article.

5

Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm.

He S, Chen W, Liu H, Li S, Lei D, Dang X, Chen Y, Zhang X, Zhang J. He S, et al. Hum Genet. 2019 Jun;138(6):673-679. doi: 10.1007/s00439-019-02021-9. Epub 2019 May 8. Hum Genet. 2019. PMID: 31069506

6

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE. Ullah F, et al. Among authors: he s. Hum Genet. 2021 Dec;140(12):1733-1751. doi: 10.1007/s00439-021-02380-2. Epub 2021 Oct 13. Hum Genet. 2021. PMID: 34647195

7

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Cai X, Chen X, Wu S, Liu W, Zhang X, Zhang D, He S, Wang B, Zhang M, Zhang Y, Li Z, Luo K, Cai Z, Li W. Cai X, et al. Among authors: he s. Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834. Sci Rep. 2016. PMID: 27174565 Free PMC article.

8

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

Bu J, He S, Wang L, Li J, Liu J, Zhang X. Bu J, et al. Among authors: he s. Indian J Ophthalmol. 2016 May;64(5):364-8. doi: 10.4103/0301-4738.185597. Indian J Ophthalmol. 2016. PMID: 27380975 Free PMC article.

9

OsGLU1, a putative membrane-bound endo-1,4-beta-D-glucanase from rice, affects plant internode elongation.

Zhou HL, He SJ, Cao YR, Chen T, Du BX, Chu CC, Zhang JS, Chen SY. Zhou HL, et al. Plant Mol Biol. 2006 Jan;60(1):137-51. doi: 10.1007/s11103-005-2972-x. Plant Mol Biol. 2006. PMID: 16463105

10

Identification of rice ethylene-response mutants and characterization of MHZ7/OsEIN2 in distinct ethylene response and yield trait regulation.

Ma B, He SJ, Duan KX, Yin CC, Chen H, Yang C, Xiong Q, Song QX, Lu X, Chen HW, Zhang WK, Lu TG, Chen SY, Zhang JS. Ma B, et al. Mol Plant. 2013 Nov;6(6):1830-48. doi: 10.1093/mp/sst087. Epub 2013 May 29. Mol Plant. 2013. PMID: 23718947 Free article.

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