Documents (226) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10631923	Two cases of Townes-Brocks syndrome. Townes-Brocks syndrome (TBS) has been recognized as a dominant	1.12 KB	2015-11-15	11	72	-
PubMed	10593995	Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van de	1.16 KB	2015-11-21	10	56	-
PubMed	9831341	Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a transloca	886 Bytes	2015-11-27	10	16	-
PubMed	19533801	Identification of a SUFU germline mutation in a family with Gorlin syndrome. Gorlin syndrome (GS) is	886 Bytes	2015-11-25	10	16	-
PubMed	1456285	Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2. We report	932 Bytes	2015-11-22	10	16	-
PubMed	2012134	Diagnosis of Angelman syndrome in infants. The diagnosis of Angelman syndrome (AS) has seldom been m	1.23 KB	2016-01-07	10	52	-
PubMed	2729353	Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, e	750 Bytes	2015-03-12	10	32	-
PubMed	1951448	Townes-Brocks syndrome in two mentally retarded youngsters. We report on 2 children with Townes-Broc	330 Bytes	2015-12-07	10	16	-
PubMed	10982040	An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(	663 Bytes	2015-11-15	10	4	-
PubMed	18478600	A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. Popliteal pteryg	909 Bytes	2017-03-14	9	60	-