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「"Sidransky E"[Author]」の検索結果

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Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".

Gaucher's disease: the best laid schemes of mice and men.

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.

Gaucher disease plus.

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.

New perspectives in type 2 Gaucher disease.

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.

Pathologic fractures may develop in Gaucher patients receiving enzyme replacement therapy.

Genetic basis of Gaucher disease.

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.

Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.

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