Works matching AU Zhuang, Jianlong
Results: 34
First clinical and pedigree study of rare HBB: c.316–90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.
- Published in:
- Annals of Hematology, 2025, v. 104, n. 1, p. 75, doi. 10.1007/s00277-024-06168-y
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- Publication type:
- Article
Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/2766625
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- Publication type:
- Article
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 8, p. 1, doi. 10.1002/bdr2.2396
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- Publication type:
- Article
Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 5, p. 1, doi. 10.1002/bdr2.2351
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- Publication type:
- Article
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2023, v. 147, n. 2, p. 208, doi. 10.5858/arpa.2021-0510-OA
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- Publication type:
- Article
Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2429
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- Publication type:
- Article
Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2365
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- Publication type:
- Article
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121
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- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52831-9
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- Publication type:
- Article
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00955-6
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- Publication type:
- Article
First Report of Filipino β<sup>0</sup>-Thalassemia/β-Thalassemia in a Chinese Family.
- Published in:
- Hemoglobin, 2024, v. 48, n. 1, p. 34, doi. 10.1080/03630269.2023.2301487
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- Publication type:
- Article
Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
- Published in:
- Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2024.1503455
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- Publication type:
- Article
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00568-9
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- Publication type:
- Article
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0461-1
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- Publication type:
- Article
PTEN expression in human cumulus cells is associated with embryo development competence.
- Published in:
- Zygote, 2022, v. 30, n. 5, p. 611, doi. 10.1017/S096719942200003X
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- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02063-7
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- Publication type:
- Article
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02014-2
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- Publication type:
- Article
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.
- Published in:
- 2020
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- Publication type:
- journal article
Molecular analysis of a large novel deletion causing α<sup>+</sup>-thalassemia.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0797-8
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- Publication type:
- Article
Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.727233
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- Publication type:
- Article
Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
- Published in:
- 2024
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- Publication type:
- Case Study
Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y
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- Publication type:
- Article
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w
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- Publication type:
- Article
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.964098
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- Publication type:
- Article
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.924573
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- Publication type:
- Article
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829613
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- Publication type:
- Article
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
- Published in:
- BMC Pregnancy & Childbirth, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12884-021-03589-9
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- Publication type:
- Article
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
- Published in:
- 2021
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- Publication type:
- journal article
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.
- Published in:
- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11297-3
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- Publication type:
- Article
Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.
- Published in:
- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06818-z
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- Publication type:
- Article
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01433-x
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- Publication type:
- Article
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
- Published in:
- 2023
- By:
- Publication type:
- Case Study