Documents (226) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	3943073	The multiple basal cell nevus syndrome: a cytogenetic study of six cases. Six patients with typical	372 Bytes	2017-03-14	1	4	-
PubMed	1479599	A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counse	1.16 KB	2015-11-30	2	36	-
PubMed	8751853	Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal	1.96 KB	2015-11-27	4	44	-
PubMed	7450780	The "happy puppet" syndrome in two siblings. Two siblings with the "happy puppet" syndrome are prese	565 Bytes	2017-03-14	4	20	-
PubMed	18701717	A Drosophila model for Angelman syndrome. Angelman syndrome is a neurological disorder whose symptom	1.66 KB	2015-11-24	4	16	-
PubMed	19206155	A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implicati	1.61 KB	2015-11-24	3	20	-
PubMed	9012416	A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Distal arthrogryposis type 1 (DA1) and F	740 Bytes	2015-12-07	2	12	-
PubMed	10767004	Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial s	1.17 KB	2015-11-15	5	68	-
PubMed	2918545	The association of Angelman's syndrome with deletions within 15q11-13. The inheritance of Angelman's	1.02 KB	2016-01-31	2	20	-
PubMed	16871364	A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly typ	1.01 KB	2015-11-19	4	12	-