Ma P - Search Results

1

[Prenatal diagnosis for a fetus with Walker-Warburg syndrome].

Ma P, Chen X, Hui L, Zhang Q, Zhang C, Hao S, Yang L, Wang X, Xu F, Zhou B. Ma P, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):572-576. doi: 10.3760/cma.j.cn511374-20220425-00279. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102292 Chinese.

2

A novel LOXHD1 variant in a Chinese couple with hearing loss.

Zhang C, Hao S, Liu Y, Zhou B, Liu F, Zheng L, Ma P, Liu Q, Lin X, Yan Y, Zhang Q. Zhang C, et al. Among authors: ma p. J Int Med Res. 2019 Dec;47(12):6082-6090. doi: 10.1177/0300060519884197. Epub 2019 Nov 10. J Int Med Res. 2019. PMID: 31709873 Free PMC article.

3

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

Zhang C, Hao S, Zhang Q, Liu F, Zhou B, Xuan F, Xing W, Chen X, Wang Y, Ma P, Cao Z, Ma X. Zhang C, et al. Among authors: ma p, ma x. J Clin Lab Anal. 2020 Sep;34(9):e23407. doi: 10.1002/jcla.23407. Epub 2020 Jul 14. J Clin Lab Anal. 2020. PMID: 32666542 Free PMC article.

4

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.

Zhang C, Wang X, Hao S, Zhang Q, Zheng L, Zhou B, Liu F, Feng X, Chen X, Ma P, Chen C, Cao Z, Ma X. Zhang C, et al. Among authors: ma p, ma x. Sci Rep. 2020 Jul 27;10(1):12509. doi: 10.1038/s41598-020-69565-z. Sci Rep. 2020. PMID: 32719376 Free PMC article.

5

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Zhang C, An L, Xue H, Hao S, Yan Y, Zhang Q, Jin X, Li Q, Zhou B, Feng X, Ma P, Wang X, Chen X, Chen C, Cao Z, Ma X. Zhang C, et al. Among authors: ma p, ma x. J Clin Lab Anal. 2021 Jan;35(1):e23567. doi: 10.1002/jcla.23567. Epub 2020 Sep 9. J Clin Lab Anal. 2021. PMID: 32909271 Free PMC article.

6

The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia.

Zhou BB, Hui L, Zhang QH, Chen X, Zhang C, Zheng L, Feng X, Wang YP, Ding ZJ, Chen RR, Ma PP, Liu FR, Hao SJ. Zhou BB, et al. Front Genet. 2022 May 12;13:854712. doi: 10.3389/fgene.2022.854712. eCollection 2022. Front Genet. 2022. PMID: 35646099 Free PMC article.

7

The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X. Zhang C, et al. Among authors: ma p, ma x. Hum Genomics. 2023 Apr 25;17(1):36. doi: 10.1186/s40246-023-00475-7. Hum Genomics. 2023. PMID: 37098607 Free PMC article.

8

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Zhang C, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X. Zhang C, et al. Among authors: ma p, ma x. Orphanet J Rare Dis. 2023 May 26;18(1):128. doi: 10.1186/s13023-023-02742-1. Orphanet J Rare Dis. 2023. PMID: 37237386 Free PMC article.

9

Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.

Tian X, Zhang X, Zhang Q, Chen X, Zhou B, Ma P, Zheng L, Hao S, Ling J, Zhang C, Hui L. Tian X, et al. Among authors: ma p. Mol Genet Genomic Med. 2024 Jan;12(1):e2308. doi: 10.1002/mgg3.2308. Epub 2023 Nov 27. Mol Genet Genomic Med. 2024. PMID: 38010033 Free PMC article.

10

[Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency].

Zhang C, Tian X, Wang Y, Ma P, Chen X, Zhou B, Zhang Q, Hao S, Hui L, Yin Z, Cao Z. Zhang C, et al. Among authors: ma p. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Feb 10;41(2):129-133. doi: 10.3760/cma.j.cn511374-20221028-00727. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38311548 Chinese.

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