LitCoin-Chemical-MeSH-CHEBI  

Documents (400) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 17910065 A novel missense mutation in the paired domain of human PAX9 causes oligodontia. PAX9 and MSX1 are t 1.13 KB 2015-11-23 34 2 2021-12-23
PubMed 20801540 Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel g 1.84 KB 2015-11-25 34 24 2021-12-23
PubMed 15485686 A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tac 1.77 KB 2015-11-19 34 9 2021-12-23
PubMed 17033686 A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and ment 1.62 KB 2017-09-11 33 0 2021-12-23
PubMed 17345627 Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossifi 1.4 KB 2017-09-11 33 0 2021-12-23
PubMed 20534762 Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undete 1.82 KB 2016-01-02 33 7 2021-12-23
PubMed 16412238 Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial par 1.45 KB 2015-11-20 33 4 2021-12-23
PubMed 16005363 Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. 909 Bytes 2015-11-19 33 2 2021-12-23
PubMed 20828385 Cytostatic and anti-angiogenic effects of temsirolimus in refractory mantle cell lymphoma. Mantle ce 1.38 KB 2015-12-31 32 9 2021-12-23
PubMed 15122711 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Alpers' syndrome is 802 Bytes 2015-11-22 32 1 2021-12-23