Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	1731805	Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lac	866 Bytes	2017-09-11	17	0	-
PubMed	8931695	Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Mutation	1.82 KB	2015-11-27	35	0	-
PubMed	1301146	Characterisation of a new rare fragile site easily confused with the fragile X. A new fragile site (	697 Bytes	2015-11-22	15	0	-
PubMed	3524231	Treatment of Duchenne muscular dystrophy with growth hormone inhibitors. A controlled, double-blind	1.04 KB	2015-11-27	16	1	-
PubMed	8178825	Huntington disease without CAG expansion: phenocopies or errors in assignment? Huntington disease (H	1.33 KB	2015-11-27	16	0	-
PubMed	6101415	Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott	1.01 KB	2015-11-28	18	2	-
PubMed	1831007	Huntington disease and childhood-onset Tourette syndrome. A 40-year-old man with childhood-onset Tou	349 Bytes	2015-12-07	16	0	-
PubMed	8375105	Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. In	909 Bytes	2015-11-27	16	0	-
PubMed	7437512	Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection. A family	1.57 KB	2015-11-27	16	1	-
PubMed	8954016	Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartom	2.01 KB	2015-11-27	33	3	-