Documents (69,086) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	1472057	Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Pit-1 is a pitui	489 Bytes	2018-06-15	10	1	2024-01-10
PubMed	7683692	A mutation of the glucocorticoid receptor in primary cortisol resistance. The precise molecular abno	1.43 KB	2018-06-15	11	2	2024-01-10
PubMed	8617766	Ubiquitinylation of transcription factors c-Jun and c-Fos using reconstituted ubiquitinylating enzym	1.3 KB	2018-06-15	31	2	2024-01-10
PubMed	9746760	A novel mutation in the coding sequence of the FY*B allele of the Duffy chemokine receptor gene is a	1.72 KB	2018-06-15	11	1	2024-01-10
PubMed	9973373	Cutting edge: dominant effect of Ile50Val variant of the human IL-4 receptor alpha-chain in IgE synt	1.01 KB	2018-06-15	9	4	2024-01-10
PubMed	10026181	Conserved residues of human XPG protein important for nuclease activity and function in nucleotide e	1.77 KB	2015-11-20	23	1	2024-01-10
PubMed	10090880	Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships an	1.64 KB	2015-11-06	12	7	2024-01-10
PubMed	10090890	Multicentric origin of hemochromatosis gene (HFE) mutations. Genetic hemochromatosis (GH) is believe	1.51 KB	2015-11-06	11	12	2024-01-10
PubMed	10094552	A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian popula	787 Bytes	2015-11-02	11	5	2024-01-10
PubMed	10194428	HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form o	1.29 KB	2015-11-17	12	15	2024-01-10