Gaucher disease phenotypes outflanked?

Same author

1342C mutation in Gaucher's disease.

Lancet (London, England)·1995

Same author

Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.

American journal of hematology·1995

Same author

Gaucher disease.

Medicine·1995

Same author

Treatment regimens in Gaucher's disease.

Lancet (London, England)·1995

Same author

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

The Journal of clinical investigation·1995

Same author

Erythrocyte fragility and chronic intermittent pigmenturia in a dog.

Journal of the American Veterinary Medical Association·1995

Same journal

Complete sequencing of medaka genomes reveals the architecture of centromeric satellites, giant mobile elements, and sex chromosomes.

Genome research·2026

Same journal

Convergence and conflict among telomere specialized transposons across 60 million years of Drosophilid evolution.

Genome research·2026

Same journal

A unified analysis of cell type- and trajectory-associated pathways in single-cell data using Phoenix.

Genome research·2026

Same journal

Resf1 is required for proper placental development and configuration of trophoblast cell-specific heterochromatin.

Genome research·2026

Same journal

Telomere-driven replicative crisis is driven by large-scale changes in genomic architecture.

Genome research·2026

Same journal

Spatially informed reference-free cell-type deconvolution for spatial transcriptomics with SpatialCD.

Genome research·2026

Related Experiment Videos

Gaucher disease phenotypes outflanked?

Related Concept Videos

1342C mutation in Gaucher's disease.

Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.

Gaucher disease.

Treatment regimens in Gaucher's disease.

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

Erythrocyte fragility and chronic intermittent pigmenturia in a dog.

Complete sequencing of medaka genomes reveals the architecture of centromeric satellites, giant mobile elements, and sex chromosomes.

Convergence and conflict among telomere specialized transposons across 60 million years of Drosophilid evolution.

A unified analysis of cell type- and trajectory-associated pathways in single-cell data using Phoenix.

Resf1 is required for proper placental development and configuration of trophoblast cell-specific heterochromatin.

Telomere-driven replicative crisis is driven by large-scale changes in genomic architecture.

Spatially informed reference-free cell-type deconvolution for spatial transcriptomics with SpatialCD.

Related Experiment Videos

Gaucher disease phenotypes outflanked?

Related Concept Videos

Related Articles

1342C mutation in Gaucher's disease.

Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.

Gaucher disease.

Treatment regimens in Gaucher's disease.

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

Erythrocyte fragility and chronic intermittent pigmenturia in a dog.

Complete sequencing of medaka genomes reveals the architecture of centromeric satellites, giant mobile elements, and sex chromosomes.

Convergence and conflict among telomere specialized transposons across 60 million years of Drosophilid evolution.

A unified analysis of cell type- and trajectory-associated pathways in single-cell data using Phoenix.

Resf1 is required for proper placental development and configuration of trophoblast cell-specific heterochromatin.

Telomere-driven replicative crisis is driven by large-scale changes in genomic architecture.

Spatially informed reference-free cell-type deconvolution for spatial transcriptomics with SpatialCD.