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	10712204	A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. Brachydactyly type A-1 (BDA1) was, i	1.03 KB	2015-11-21	4	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	10771486	Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. Schwannoma	1.5 KB	2015-11-15	5	80	-
PubMed	10861661	Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. Among 25 pa	1.39 KB	2015-11-21	3	12	-
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	11078565	Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methyl	1.36 KB	2015-11-17	11	44	-
PubMed	1110452	Older paternal age and fresh gene mutation: data on additional disorders. Older paternal age has pre	745 Bytes	2017-03-14	1	12	-
PubMed	11152153	Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. A 1-year-	403 Bytes	2017-03-14	8	12	-
PubMed	11169564	Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogenei	1.26 KB	2015-11-21	1	44	-