Pu L - Search Results

1

Efficacy and Safety of Diet Therapies in Children With Autism Spectrum Disorder: A Systematic Literature Review and Meta-Analysis.

Yu Y, Huang J, Chen X, Fu J, Wang X, Pu L, Gu C, Cai C. Yu Y, et al. Among authors: pu l. Front Neurol. 2022 Mar 14;13:844117. doi: 10.3389/fneur.2022.844117. eCollection 2022. Front Neurol. 2022. PMID: 35359629 Free PMC article.

2

Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.

Fang YL, Li N, Zhi XF, Zheng J, Liu Y, Pu LJ, Gu CY, Shu JB, Cai CQ. Fang YL, et al. Neurol Sci. 2021 May;42(5):1827-1833. doi: 10.1007/s10072-020-04697-8. Epub 2020 Sep 7. Neurol Sci. 2021. PMID: 32895776

3

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Zhang R, Gu C, Pu L, Meng Y, Shu J, Cai C. Zhang R, et al. Among authors: pu l. Ital J Pediatr. 2020 Nov 4;46(1):166. doi: 10.1186/s13052-020-00925-1. Ital J Pediatr. 2020. PMID: 33148303 Free PMC article.

4

A cohort of five cases with asymmetric conjoined twining and literature review.

Zhi X, Hu B, Zhao X, Chen J, Gu C, Pu L, Fang Y, Cai C. Zhi X, et al. Among authors: pu l. Pediatr Surg Int. 2022 Jan;38(1):169-181. doi: 10.1007/s00383-021-05006-w. Epub 2021 Aug 31. Pediatr Surg Int. 2022. PMID: 34467432 Review.

5

A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemia.

Wang P, Qian Y, Gu C, Zhi X, Pu L, Yan D, Shu J, Lv L, Cai C. Wang P, et al. Among authors: pu l. Clin Chim Acta. 2021 Dec;523:469-475. doi: 10.1016/j.cca.2021.10.033. Epub 2021 Oct 28. Clin Chim Acta. 2021. PMID: 34755648

6

Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria.

Zhang M, Wang X, Wang R, Shu J, Zhi X, Gu C, Pu L, Cai C, Yang W, Lv L. Zhang M, et al. Among authors: pu l. J Clin Lab Anal. 2022 Jan;36(1):e24164. doi: 10.1002/jcla.24164. Epub 2021 Dec 3. J Clin Lab Anal. 2022. PMID: 34861060 Free PMC article.

7

Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.

Zhi X, Pu L, Wu B, Cui Y, Yu C, Dong Y, Li D, Cai C. Zhi X, et al. Among authors: pu l. Clin Chim Acta. 2022 Jul 1;532:137-144. doi: 10.1016/j.cca.2022.05.023. Epub 2022 Jun 8. Clin Chim Acta. 2022. PMID: 35690084

8

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.

Gu C, Lu X, Ma J, Pu L, Zhi X, Shu J, Li D, Cai C. Gu C, et al. Among authors: pu l. BMC Pediatr. 2022 Jul 30;22(1):459. doi: 10.1186/s12887-022-03515-8. BMC Pediatr. 2022. PMID: 35907814 Free PMC article.

9

Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes.

Chen X, Fu J, Qian Y, Zhi X, Pu L, Gu C, Shu J, Lv L, Cai C. Chen X, et al. Among authors: pu l. Front Pediatr. 2022 Oct 5;10:965296. doi: 10.3389/fped.2022.965296. eCollection 2022. Front Pediatr. 2022. PMID: 36275052 Free PMC article.

10

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Liu Y, Dong L, Zhi X, Liu Y, Zhao L, Xu X, Wang L, Zheng J, Pu L, Gu C, Shu J, Cai C. Liu Y, et al. Among authors: pu l. Mol Genet Genomic Med. 2023 Jan;11(1):e2094. doi: 10.1002/mgg3.2094. Epub 2022 Nov 15. Mol Genet Genomic Med. 2023. PMID: 36378568 Free PMC article.

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