Liu H - Search Results

1

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

Mu D, Yang Y, Liu Y, Shen Y, Liu H, Wang J. Mu D, et al. Among authors: liu y, liu h. Orphanet J Rare Dis. 2024 Nov 12;19(1):423. doi: 10.1186/s13023-024-03369-6. Orphanet J Rare Dis. 2024. PMID: 39533347 Free PMC article. Review.

2

A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.

Wang J, Zhu Q, Liu H. Wang J, et al. Among authors: liu h. Medicine (Baltimore). 2018 May;97(21):e10837. doi: 10.1097/MD.0000000000010837. Medicine (Baltimore). 2018. PMID: 29794777 Free PMC article.

3

Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.

Wang J, Zhou C, Xiao Y, Liu H. Wang J, et al. Among authors: liu h. Medicine (Baltimore). 2018 Oct;97(41):e12779. doi: 10.1097/MD.0000000000012779. Medicine (Baltimore). 2018. PMID: 30313097 Free PMC article.

4

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.

Wang X, Zhang Z, Zhang X, Shen Y, Liu H. Wang X, et al. Among authors: liu h. Hum Genomics. 2020 Jun 29;14(1):26. doi: 10.1186/s40246-020-00274-4. Hum Genomics. 2020. PMID: 32600475 Free PMC article.

5

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia.

Yang Y, Wang Y, Shen Y, Liu M, Dai S, Wang X, Liu H. Yang Y, et al. Among authors: liu h, liu m. Front Genet. 2022 Feb 17;13:792183. doi: 10.3389/fgene.2022.792183. eCollection 2022. Front Genet. 2022. PMID: 35251124 Free PMC article.

6

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.

Dai S, Yang Y, Li Y, Liu H. Dai S, et al. Among authors: liu h. Genet Res (Camb). 2022 Jul 22;2022:5611697. doi: 10.1155/2022/5611697. eCollection 2022. Genet Res (Camb). 2022. PMID: 35919035 Free PMC article.

7

Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.

Dai S, Liang Y, Liu M, Yang Y, Liu H, Shen Y. Dai S, et al. Among authors: liu h, liu m. Mol Genet Genomic Med. 2022 Dec;10(12):e2078. doi: 10.1002/mgg3.2078. Epub 2022 Nov 8. Mol Genet Genomic Med. 2022. PMID: 36346162 Free PMC article.

8

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.

Yang F, Sun H, Yang Y, Wang Y, Dai S, Lin Z, Shen Y, Liu H. Yang F, et al. Among authors: liu h. Clin Genet. 2023 May;103(5):596-602. doi: 10.1111/cge.14300. Epub 2023 Jan 21. Clin Genet. 2023. PMID: 36650939

9

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

Liu M, Dai S, Zhang J, Yang Y, Shen Y, Liu H, Yang Y, Jiang C, Tian E. Liu M, et al. Among authors: liu h. Front Endocrinol (Lausanne). 2023 Jun 23;14:1155639. doi: 10.3389/fendo.2023.1155639. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37424856 Free PMC article.

10

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

Bai T, Shen Y, Yang Y, Dai S, Liu H. Bai T, et al. Among authors: liu h. Am J Med Genet A. 2024 Apr;194(4):e63491. doi: 10.1002/ajmg.a.63491. Epub 2023 Dec 6. Am J Med Genet A. 2024. PMID: 38057991

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