ドキュメント一覧 (1,000) JSON TSV

ソースDB ソースID テキスト proj.数 annotationsの数
PubMed 15221280 Trisomy 7 in synovial fluid cells of patients with rheumatoid arthritis. OBJECTIVE: Recent studies r 4 0 表示
PubMed 15489504 The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. The ca 3 0 表示
PubMed 15657603 Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I s 8 0 表示
PubMed 15663649 Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. Epidermolytic hyperkeratosis is an 2 0 表示
PubMed 15674332 Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular featur 5 0 表示
PubMed 15678000 [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a de 12 0 表示
PubMed 15710860 A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. BAC 5 0 表示
PubMed 15725589 Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. Oculopharyngea 12 0 表示
PubMed 15744456 Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not inter 5 0 表示
PubMed 15747371 Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. In domi 3 0 表示