Documents (226) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	12592607	Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.	1.26 KB	2015-11-22	1	24	-
PubMed	11896453	Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Six breakp	1.38 KB	2015-11-22	1	4	-
PubMed	1248162	Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. The present r	1003 Bytes	2017-03-14	1	52	-
PubMed	8533848	Phenotypic manifestations of branchio-oto-renal syndrome. Branchiootorenal (BOR) syndrome is a varia	559 Bytes	2017-03-14	1	36	-
PubMed	8576558	Seizure and EEG patterns in Angelman's syndrome. We studied the seizure and polygraphic patterns of	915 Bytes	2017-03-14	1	80	-
PubMed	8379998	Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis t	656 Bytes	2017-03-14	1	8	-
PubMed	8352281	Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian	1.05 KB	2017-03-14	1	16	-
PubMed	8326488	Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. The	886 Bytes	2017-03-14	1	44	-
PubMed	8318482	Lens opacities in neurofibromatosis 2: further significant correlations. This prospective study of 9	1.06 KB	2017-03-14	1	112	-
PubMed	8160736	Branchio-oculo-facial syndrome: broadening the spectrum. We present 3 individuals, a mother, her son	1.02 KB	2017-03-14	1	20	-