Luo H - Search Results

1

[Analysis of a pedigree affected with propionic acidemia by trio whole exome sequencing].

Yang Y, Liu Y, Chen J, Luo H. Yang Y, et al. Among authors: luo h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):751-754. doi: 10.3760/cma.j.issn.1003-9406.2020.07.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32619257 Chinese.

2

[Application of NGS-based SNP haplotyping for preimplantation genetic diagnosis for beta-thalassemia and HLA matching].

Yang Y, Liu Y, Lu Q, Chen J, Luo H, Ma P. Yang Y, et al. Among authors: luo h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1090-1093. doi: 10.3760/cma.j.issn.1003-9406.2019.11.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31703132 Chinese.

3

A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family.

Luo H, Zou Y, Liu Y. Luo H, et al. Hemoglobin. 2020 Jan;44(1):55-57. doi: 10.1080/03630269.2020.1714648. Epub 2020 Jan 15. Hemoglobin. 2020. PMID: 31939318

4

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.

Zou Y, Luo H, Yuan H, Xie K, Yang Y, Huang S, Yang B, Liu Y. Zou Y, et al. Among authors: luo h. Front Neurol. 2022 Jul 6;13:904027. doi: 10.3389/fneur.2022.904027. eCollection 2022. Front Neurol. 2022. PMID: 35873758 Free PMC article.

5

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Luo H, Huang T, Lu Q, Zhang L, Xu Y, Yang Y, Guo Z, Yuan H, Shen Y, Huang S, Yang B, Zou Y, Liu Y. Luo H, et al. Front Genet. 2022 Sep 28;13:992073. doi: 10.3389/fgene.2022.992073. eCollection 2022. Front Genet. 2022. PMID: 36246595 Free PMC article.

6

Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.

Luo H, Yang Y, Wang X, Xu F, Huang C, Liu D, Zhang L, Huang T, Ma P, Lu Q, Huang S, Yang B, Zou Y, Liu Y. Luo H, et al. Front Pediatr. 2022 Oct 31;10:1020519. doi: 10.3389/fped.2022.1020519. eCollection 2022. Front Pediatr. 2022. PMID: 36389375 Free PMC article.

7

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7.

Huang C, Luo H, Zeng B, Feng C, Chen J, Yuan H, Huang S, Yang B, Zou Y, Liu Y. Huang C, et al. Among authors: luo h. Front Genet. 2023 Dec 20;14:1290949. doi: 10.3389/fgene.2023.1290949. eCollection 2023. Front Genet. 2023. PMID: 38179410 Free PMC article.

8

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

Yang Y, Luo H, Pan L, Feng C, Guo Z, Zou Y, Zeng B, Huang S, Yuan H, Wu P, Liu D, Dan Y, Xiao J, Li X, Chen Z, Zeng XN, Jiang X, Yang B, Liu Y, Liu Y. Yang Y, et al. Among authors: luo h. Hum Mol Genet. 2024 Apr 27:ddae071. doi: 10.1093/hmg/ddae071. Online ahead of print. Hum Mol Genet. 2024. PMID: 38676628

9

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study.

Lu Q, Luo L, Zeng B, Luo H, Wang X, Qiu L, Yang Y, Feng C, Zhou J, Hu Y, Huang T, Ma P, Huang T, Xie K, Yuan H, Huang S, Yang B, Zou Y, Liu Y. Lu Q, et al. Among authors: luo h, luo l. Orphanet J Rare Dis. 2024 Aug 22;19(1):307. doi: 10.1186/s13023-024-03317-4. Orphanet J Rare Dis. 2024. PMID: 39175064 Free PMC article.

10

Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China.

Tan L, Huang T, Luo L, Ma P, Liu J, Zou J, Lu Q, Zou Y, Liu Y, Luo H, Yang B. Tan L, et al. Among authors: luo h, luo l. Hemoglobin. 2024 Dec 10:1-6. doi: 10.1080/03630269.2024.2438707. Online ahead of print. Hemoglobin. 2024. PMID: 39659024 Free article.

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