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PubMed 16135556 Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Tw 6 0 show
PubMed 17911039 An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS ge 5 0 show
PubMed 19473408 Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel. Haemophili 8 0 show
PubMed 26990546 Increase in NRAS mutant allele percentage during metastatic melanoma progression. One-fifth of cutan 11 0 show
PubMed 19781108 Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Sarcoglycanopathies are a gro 2 0 show
PubMed 22221592 Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation. BACKGROU 6 0 show
PubMed 27747153 Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairme 11 0 show
PubMed 19108832 Network analyses of differentially expressed proteins in amniotic fluid supernatant associated with 10 0 show
PubMed 26671124 Dysferlinopathy in Iran: Clinical and genetic report. BACKGROUND: Dysferlinopathy is caused by a ver 9 0 show
PubMed 15857086 A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome. BACKGROUND 14 0 show