Guo L - Search Results

1

Response to Finsterer re: "Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome".

Guo L, Wang X, Ji H. Guo L, et al. DNA Cell Biol. 2020 Oct;39(10):1908-1911. doi: 10.1089/dna.2020.5948. Epub 2020 Sep 28. DNA Cell Biol. 2020. PMID: 32986506 No abstract available.

2

Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.

Cheng N, Wang H, Wu W, Yang R, Liu L, Han Y, Guo L, Hu J, Xu L, Zhao J, Han Y, Liu Q, Li K, Wang X, Chen W. Cheng N, et al. Among authors: guo l. Clin Genet. 2017 Jul;92(1):69-79. doi: 10.1111/cge.12951. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27982432

3

Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.

Guo L, Wang X, Ji H. Guo L, et al. DNA Cell Biol. 2020 Aug;39(8):1449-1457. doi: 10.1089/dna.2019.5010. Epub 2020 Jun 29. DNA Cell Biol. 2020. PMID: 32609007

4

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

Zhang J, Liu H, Liu Z, Liao Y, Guo L, Wang H, He L, Zhang X, Xing Q. Zhang J, et al. Among authors: guo l. PLoS One. 2013;8(1):e53981. doi: 10.1371/journal.pone.0053981. Epub 2013 Jan 8. PLoS One. 2013. PMID: 23342054 Free PMC article.

5

A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.

Zhou D, Ji H, Wei Z, Guo L, Li Y, Wang T, Zhu Y, Dong X, Wang Y, He L, Xing Q, Zhang L. Zhou D, et al. Among authors: guo l. Mol Vis. 2013 Apr 5;19:789-95. Print 2013. Mol Vis. 2013. PMID: 23592915 Free PMC article.

6

Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.

Gu X, Sun S, Guo L, Lu X, Mei H, Lai C, Li H. Gu X, et al. Among authors: guo l. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):817-820. doi: 10.1016/j.ijporl.2015.03.008. Epub 2015 Mar 18. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25829320

7

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.

Gu X, Su W, Tang M, Guo L, Zhao L, Li H. Gu X, et al. Among authors: guo l. Neural Plast. 2016;2016:5310192. doi: 10.1155/2016/5310192. Epub 2016 Dec 27. Neural Plast. 2016. PMID: 28116169 Free PMC article.

8

Polymorphism in the third intron of the interferonγ gene is associated with susceptibility to multiple sclerosis.

Wang XL, Meng FR, Wang X, Wang SH, Guo L. Wang XL, et al. Among authors: guo l. Genet Mol Res. 2017 Feb 16;16(1). doi: 10.4238/gmr16017538. Genet Mol Res. 2017. PMID: 28218775 Free article.

9

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, Sun S, Hao SJ, Jin L, Chai G, Zhang TY. Chen Y, et al. Among authors: guo l. Mol Genet Genomics. 2018 Apr;293(2):569-577. doi: 10.1007/s00438-017-1384-3. Epub 2017 Dec 11. Mol Genet Genomics. 2018. PMID: 29230583

10

Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families.

Du Q, Zhang Y, Hong R, Tulamaiti N, Abulaiti M, Awuti N, Wusiman W, Alimu X, Wusiman A, Kadier N, Li H, Zhang Z, Qi H, Xia Z, Abudukeyoumu A, Li H, Guo L. Du Q, et al. Among authors: guo l. BMC Med Genomics. 2024 Oct 18;17(1):254. doi: 10.1186/s12920-024-02023-1. BMC Med Genomics. 2024. PMID: 39425091 Free PMC article.

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