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「"Sidransky E"[Author]」の検索結果

225件中 181件~200件表示    検索結果をPubMedで見る PubMedで見る

Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses.

Large CAG/CTG repeats are associated with childhood-onset schizophrenia.

HLA antigens in childhood onset schizophrenia.

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique.

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

Splenectomy in Gaucher disease: new management dilemmas.

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.

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