Wu B - Search Results

1

A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.

Liu B, Wu B, Lu Y, Zhang P, Xiao F, Li G, Wang H, Dong X, Liu R, Li Y, Xie X, Zhou W, Wang J, Lu Y. Liu B, et al. Among authors: wu b. J Mol Diagn. 2020 Dec;22(12):1373-1382. doi: 10.1016/j.jmoldx.2020.08.006. Epub 2020 Sep 19. J Mol Diagn. 2020. PMID: 32961316 Free article.

2

JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.

Xie X, Lu Y, Wang X, Wu B, Yu H. Xie X, et al. Among authors: wu b. Int J Clin Exp Pathol. 2015 Jul 1;8(7):8506-11. eCollection 2015. Int J Clin Exp Pathol. 2015. PMID: 26339425 Free PMC article.

3

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.

Wang H, Qian Y, Wu B, Zhang P, Zhou W. Wang H, et al. Among authors: wu b. BMC Med Genet. 2015 Oct 31;16:101. doi: 10.1186/s12881-015-0247-1. BMC Med Genet. 2015. PMID: 26521233 Free PMC article.

4

Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

Huang Z, Miao S, Wang L, Zhang P, Wu B, Wu J, Huang Y. Huang Z, et al. Among authors: wu b, wu j. BMC Gastroenterol. 2015 Nov 25;15:166. doi: 10.1186/s12876-015-0397-9. BMC Gastroenterol. 2015. PMID: 26607058 Free PMC article.

5

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Huang Z, Peng K, Li X, Zhao R, You J, Cheng X, Wang Z, Wang Y, Wu B, Wang H, Zeng H, Yu Z, Zheng C, Wang Y, Huang Y. Huang Z, et al. Among authors: wu b. Inflamm Bowel Dis. 2017 Apr;23(4):578-590. doi: 10.1097/MIB.0000000000001058. Inflamm Bowel Dis. 2017. PMID: 28267044

6

First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.

Sun W, Wang Y, Zu Z, Jiang Y, Lu W, Wang H, Wu B, Zhang P, Peng X, Zhou H. Sun W, et al. Among authors: wu b. Clin Chim Acta. 2017 Jul;470:42-45. doi: 10.1016/j.cca.2017.04.013. Epub 2017 Apr 22. Clin Chim Acta. 2017. PMID: 28438604

7

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome.

Chen X, Wang H, Wu B, Dong X, Liu B, Chen H, Lu Y, Zhou W, Yang L. Chen X, et al. Among authors: wu b. J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):183-187. doi: 10.4274/jcrpe.5080. Epub 2017 Oct 30. J Clin Res Pediatr Endocrinol. 2018. PMID: 29082893 Free PMC article.

8

Speech and language delay in a patient with WDR4 mutations.

Chen X, Gao Y, Yang L, Wu B, Dong X, Liu B, Lu Y, Zhou W, Wang H. Chen X, et al. Among authors: wu b. Eur J Med Genet. 2018 Aug;61(8):468-472. doi: 10.1016/j.ejmg.2018.03.007. Epub 2018 Mar 26. Eur J Med Genet. 2018. PMID: 29597095

9

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W. Kong Y, et al. Among authors: wu b. Clin Chim Acta. 2018 Aug;483:14-19. doi: 10.1016/j.cca.2018.03.027. Epub 2018 Apr 9. Clin Chim Acta. 2018. PMID: 29649454

10

Umbilical Cord Blood Transplantation Corrects Very Early-Onset Inflammatory Bowel Disease in Chinese Patients With IL10RA-Associated Immune Deficiency.

Peng K, Qian X, Huang Z, Lu J, Wang Y, Zhou Y, Wang H, Wu B, Wang Y, Chen L, Zhai X, Huang Y. Peng K, et al. Among authors: wu b. Inflamm Bowel Dis. 2018 Jun 8;24(7):1416-1427. doi: 10.1093/ibd/izy028. Inflamm Bowel Dis. 2018. PMID: 29788474

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