Wei X - Search Results

1

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.

Sun J, McGillivray AJ, Pinner J, Yan Z, Liu F, Bratkovic D, Thompson E, Wei X, Jiang H, Asan, Chopra M. Sun J, et al. Among authors: wei x. JIMD Rep. 2017;34:1-9. doi: 10.1007/8904_2016_3. Epub 2016 Jul 27. JIMD Rep. 2017. PMID: 27469131 Free PMC article.

2

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.

Liu JW; Asan; Sun J, Vano-Galvan S, Liu FX, Wei XX, Ma DL. Liu JW, et al. Chin Med J (Engl). 2016 Jan 5;129(1):33-8. doi: 10.4103/0366-6999.172564. Chin Med J (Engl). 2016. PMID: 26712430 Free PMC article.

3

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F. Wang F, et al. Among authors: wei x. Pediatr Nephrol. 2017 Jul;32(7):1181-1192. doi: 10.1007/s00467-017-3590-y. Epub 2017 Feb 15. Pediatr Nephrol. 2017. PMID: 28204945 Free PMC article.

4

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Liu JH, Wei XX, Li A, Cui YX, Xia XY, Qin WS, Zhang MC, Gao EZ, Sun J, Gao CL, Liu FX, Wu QY, Li WW, Asan, Liu ZH, Li XJ. Liu JH, et al. PLoS One. 2017 May 18;12(5):e0177685. doi: 10.1371/journal.pone.0177685. eCollection 2017. PLoS One. 2017. PMID: 28542346 Free PMC article.

5

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.

Li A, Gao EZ, Cui YX, Liu JH, Lv X, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ. Li A, et al. Among authors: wei xx. Cytogenet Genome Res. 2018;154(1):30-36. doi: 10.1159/000486979. Epub 2018 Feb 15. Cytogenet Genome Res. 2018. PMID: 29669314

6

The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.

Li A, Cui YX, Lv X, Liu JH, Gao EZ, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ. Li A, et al. Among authors: wei xx. Cytogenet Genome Res. 2018;154(3):132-136. doi: 10.1159/000488163. Epub 2018 May 9. Cytogenet Genome Res. 2018. PMID: 29742505

7

Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.

Xu XJ, Lv F, Song YW, Li LJ, Asan, Wei XX, Zhao XL, Jiang Y, Wang O, Xing XP, Xia WB, Li M. Xu XJ, et al. Clin Chim Acta. 2019 Feb;489:21-28. doi: 10.1016/j.cca.2018.11.004. Epub 2018 Nov 5. Clin Chim Acta. 2019. PMID: 30408480

8

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.

Zhou J, Yang Z, Sun J, Liu L, Zhou X, Liu F, Xing Y, Cui S, Xiong S, Liu X, Yang Y, Wei X, Zou G, Wang Z, Wei X, Wang Y, Zhang Y, Yan S, Wu F, Zeng F, Wang J, Duan T, Peng Z, Sun L. Zhou J, et al. Among authors: wei x. Genes (Basel). 2021 Mar 6;12(3):376. doi: 10.3390/genes12030376. Genes (Basel). 2021. PMID: 33800913 Free PMC article.

9

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.

Yang Z, Huang M, Wei X, Sun J, Zhang F. Yang Z, et al. Among authors: wei x. Mol Genet Genomic Med. 2023 Jul;11(7):e2193. doi: 10.1002/mgg3.2193. Epub 2023 May 25. Mol Genet Genomic Med. 2023. PMID: 37232061 Free PMC article.

10

Dual modality prompt learning for visual question-grounded answering in robotic surgery.

Zhang Y, Fan W, Peng P, Yang X, Zhou D, Wei X. Zhang Y, et al. Among authors: wei x. Vis Comput Ind Biomed Art. 2024 Apr 22;7(1):9. doi: 10.1186/s42492-024-00160-z. Vis Comput Ind Biomed Art. 2024. PMID: 38647624

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