Works matching AU Jiwu, Lou
Results: 9
A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A<sub>2</sub> from a cohort of 47336 individuals.
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- International Journal of Laboratory Hematology, 2023, v. 45, n. 1, p. 90, doi. 10.1111/ijlh.13959
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- Article
Hyperhaemolysis in a pregnant woman with a homozygous β<sup>0</sup>‐thalassemia mutation and two genetic modifiers.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1696
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- Article
Hb H disease associated with compound heterozygosity for --<sup>SEA</sup> deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.
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- Hematology, 2024, v. 29, n. 1, p. 1, doi. 10.1080/16078454.2024.2339559
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- Article
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0728-8
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- Article
Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families.
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- Hemoglobin, 2019, v. 43, n. 2, p. 101, doi. 10.1080/03630269.2019.1607372
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- Article
Hb H Disease Results from Compound Heterozygosity of – –<sup>SEA</sup> and –α<sup>MAL3.5</sup> in a Chinese Family.
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- Hemoglobin, 2019, v. 43, n. 1, p. 69, doi. 10.1080/03630269.2019.1575849
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- Article
Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals.
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- Hemoglobin, 2018, v. 42, n. 2, p. 132, doi. 10.1080/03630269.2018.1458628
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- Article
Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.
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- Journal of Maternal-Fetal & Neonatal Medicine, 2022, v. 35, n. 16, p. 3064, doi. 10.1080/14767058.2020.1808612
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- Article
Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.
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- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0171886
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- Article