The molecular genetics of thalassemia

Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up.

Hematology (Amsterdam, Netherlands)·2016

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

Blood·2001

One-day ex vivo culture allows effective gene transfer into human nonobese diabetic/severe combined immune-deficient repopulating cells using high-titer vesicular stomatitis virus G protein pseudotyped retrovirus.

Blood·1999

Clinical research: perceptions, reality, and proposed solutions. National Institutes of Health Director's Panel on Clinical Research.

JAMA·1998

The beta chain of the interleukin-3 receptor functionally associates with the erythropoietin receptor.

Blood·1997

The beta c component of the granulocyte-macrophage colony-stimulating factor (GM-CSF)/interleukin 3 (IL-3)/IL-5 receptor interacts with a hybrid GM-CSF/erythropoietin receptor to influence proliferation and beta-globin mRNA expression.

Molecular medicine (Cambridge, Mass.)·1996

Genetic aspects of immunoglobulin A deficiency.

Advances in human genetics·1990

Structural defects in inherited and giant platelet disorders.

Advances in human genetics·1990

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

Related Experiment Videos

The molecular genetics of thalassemia

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Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up.

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

One-day ex vivo culture allows effective gene transfer into human nonobese diabetic/severe combined immune-deficient repopulating cells using high-titer vesicular stomatitis virus G protein pseudotyped retrovirus.

Clinical research: perceptions, reality, and proposed solutions. National Institutes of Health Director's Panel on Clinical Research.

The beta chain of the interleukin-3 receptor functionally associates with the erythropoietin receptor.

The beta c component of the granulocyte-macrophage colony-stimulating factor (GM-CSF)/interleukin 3 (IL-3)/IL-5 receptor interacts with a hybrid GM-CSF/erythropoietin receptor to influence proliferation and beta-globin mRNA expression.

Genetic aspects of immunoglobulin A deficiency.

Structural defects in inherited and giant platelet disorders.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

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The molecular genetics of thalassemia

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