Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

  PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups

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  dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation

  maternal serial genomic chorion dhplc automated pcr

• Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.

  PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups

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  The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).

  genomic pcr cdna pcr-sscp sequencing

• Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

  PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups

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  CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations

  korean family bronchial quantitative sweat cftr

• Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.

  PMID 16512914 · PMC1413517 · BMC medical genetics · 2006 · 8 claims · 5 setups

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  Patient carries a novel 2.3 Mb deletion in 22q11.2 with proximal breakpoint between RH48663/RH48348 and distal breakpoint between D22S1138/SHGC-145314

  genomic maternal 22qtdr chromosome semi-quantitative pcr fish

• Genotypic analysis of two hypervariable human cytomegalovirus genes.

  PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups

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  UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.

  hcmv clinical pcr ul146 pcr nested molecular