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Department of Molecular and Human Genetics, Baylor College of Medicine | 論文
- Cytogenetic Analysis and Examination of SOS1 Gene Mutation in a Turkish Family with Hereditary Gingival Fibromatosis
- Clinical features of isolated left ventricular noncompaction : infantile type and juvenile type
- First prenatal exclusion of cystic fibrosis in East Asia
- Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer
- Alpers syndrome with prominent white matter changes
- Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia
- Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
- Plasticity in the development and dedifferentiation of Dictyostelium discoideum
- Determination of 3-keto-4-ene steroids and their hydroxylated metabolites catalyzed by recombinant human cytochrome P450 1B1 enzyme using gas chromatography-mass spectrometry with trimethylsilyl derivatization
- Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
- A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan
- Mitochondrial DNA variant interactions modify breast cancer risk
- A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
- LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
- Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
- Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3