Documents (226) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8145850	Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.	1.13 KB	2017-03-28	2	0	-
PubMed	8317476	Linkage analysis in familial Angelman syndrome. Familial Angelman syndrome (AS) can result from muta	1.41 KB	2015-11-27	3	0	-
PubMed	3321989	Recurrence risk in the Angelman ("happy puppet") syndrome. We report on two sibs with Angelman "happ	339 Bytes	2017-03-14	3	2	-
PubMed	18285427	A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. BACKGROUND: N	1.31 KB	2015-11-24	4	3	-
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	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	6823972	Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome. No differenc	755 Bytes	2015-12-06	3	4	-
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	1357962	Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.	1.21 KB	2015-03-12	8	4	-
PubMed	1360768	Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman synd	918 Bytes	2017-03-14	1	4	-