Documents (226) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	7039311	The distal arthrogryposes: delineation of new entities--review and nosologic discussion. We report o	1.82 KB	2017-03-14	1	160	-
PubMed	3547011	Nevoid basal-cell carcinoma syndrome. The nevoid basal-cell carcinoma syndrome is characterized by m	2.05 KB	2017-03-14	8	120	-
PubMed	263442	Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies	1.53 KB	2016-01-30	9	120	-
PubMed	8318482	Lens opacities in neurofibromatosis 2: further significant correlations. This prospective study of 9	1.06 KB	2017-03-14	1	112	-
PubMed	16401744	Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. BACKGROUN	2.53 KB	2017-03-14	1	108	-
PubMed	3321995	New autosomal dominant branchio-oculo-facial syndrome. We observed an autosomal dominant disorder of	840 Bytes	2017-03-14	8	92	-
PubMed	8929945	Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. We report the c	2.15 KB	2015-11-27	4	92	-
PubMed	3180506	A new family with the Townes-Brocks syndrome. We describe a new family with the Townes-Brocks syndro	976 Bytes	2017-03-14	8	92	-
PubMed	6964893	The earpits-deafness syndrome. Clinical and genetic aspects. Several pedigrees with 19 new cases of	1.59 KB	2015-11-28	3	84	-
PubMed	10771486	Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. Schwannoma	1.5 KB	2015-11-15	5	80	-