Wu B - Search Results

1

Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T).

Yin T, Wu B, Peng T, Liao Y, Jiao S, Wang H. Yin T, et al. Among authors: wu b. Stem Cell Res. 2023 Jun;69:103118. doi: 10.1016/j.scr.2023.103118. Epub 2023 May 6. Stem Cell Res. 2023. PMID: 37216737 Free article.

2

Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.

Ge MM, Gao YY, Wu BB, Yan K, Qin Q, Wang H, Zhou W, Yang L. Ge MM, et al. Mol Biol Rep. 2019 Oct;46(5):4717-4724. doi: 10.1007/s11033-019-04916-2. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270759

3

[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].

Sun WH, Zhuang DY, Wang Y, Xiao FF, Wu MY, Dong XR, Zhang P, Wang HJ, Zhou WH, Wu BB. Sun WH, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2020 May;22(5):482-487. doi: 10.7499/j.issn.1008-8830.2002012. Zhongguo Dang Dai Er Ke Za Zhi. 2020. PMID: 32434645 Free PMC article. Chinese.

4

A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report.

Xu Y, Wu BB, Wang HJ, Zhou SZ, Cheng GQ, Zhou YF. Xu Y, et al. Transl Pediatr. 2020 Oct;9(5):707-712. doi: 10.21037/tp-20-110. Transl Pediatr. 2020. PMID: 33209735 Free PMC article.

5

Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.

Zhang P, Zhao J, Peng XM, Qian YY, Zhao XM, Zhou WH, Wang JS, Wu BB, Wang HJ. Zhang P, et al. J Clin Lipidol. 2021 Jan-Feb;15(1):116-123. doi: 10.1016/j.jacl.2020.12.004. Epub 2020 Dec 14. J Clin Lipidol. 2021. PMID: 33414089

6

Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.

Mei HF, Dong XR, Chen HY, Lu YL, Wu BB, Wang HJ, Cheng GQ, Wang LS, Cao Y, Yang L, Zhou WH. Mei HF, et al. World J Pediatr. 2021 Jun;17(3):305-316. doi: 10.1007/s12519-021-00429-w. Epub 2021 Apr 29. World J Pediatr. 2021. PMID: 33914258

7

Secondary genomic findings in the 2020 China Neonatal Genomes Project participants.

Xiao H, Zhang JT, Dong XR, Lu YL, Wu BB, Wang HJ, Zhao ZY, Yang L, Zhou WH. Xiao H, et al. World J Pediatr. 2022 Oct;18(10):687-694. doi: 10.1007/s12519-022-00558-w. Epub 2022 Jun 21. World J Pediatr. 2022. PMID: 35727495

8

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.

Zhao X, Wu B, Chen H, Zhang P, Qian Y, Peng X, Dong X, Wang Y, Li G, Dong C, Wang H. Zhao X, et al. Among authors: wu b. Front Pediatr. 2022 Oct 6;10:982361. doi: 10.3389/fped.2022.982361. eCollection 2022. Front Pediatr. 2022. PMID: 36275064 Free PMC article.

9

[Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates].

Xiao FF, Lu YL, Wu BB, Dong XR, Cheng GQ, Hu LY, Zhou WH, Peng XM, Yang L, Wang HJ. Xiao FF, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):135-139. doi: 10.7499/j.issn.1008-8830.2210096. Zhongguo Dang Dai Er Ke Za Zhi. 2023. PMID: 36854688 Free PMC article. Chinese.

10

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.

Zhu J, Li W, Yu S, Lu W, Xu Q, Wang S, Qian Y, Guo Q, Xu S, Wang Y, Zhang P, Zhao X, Ni Q, Liu R, Li X, Wu B, Zhou S, Wang H. Zhu J, et al. Among authors: wu b. Front Pediatr. 2023 Mar 3;11:1091532. doi: 10.3389/fped.2023.1091532. eCollection 2023. Front Pediatr. 2023. PMID: 36937983 Free PMC article.

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