Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	2817003	Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. A father and daughter w	486 Bytes	2015-03-12	15	0	-
PubMed	9674906	Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Recent studies d	1.41 KB	2015-03-12	30	1	-
PubMed	9400934	The RB1 gene mutation in a child with ectopic intracranial retinoblastoma. The RB1 gene mutation was	770 Bytes	2015-11-28	32	0	-
PubMed	1384324	Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteoli	1.38 KB	2015-11-22	15	2	-
PubMed	2404853	A normal male with an inherited deletion of one exon within the DMD gene. We describe two brothers w	425 Bytes	2015-11-26	17	0	-
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	14	4	-
PubMed	8528199	WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. The WASP gene has bee	1.3 KB	2015-11-27	16	1	-
PubMed	9056547	Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form o	1.07 KB	2015-12-08	31	0	-
PubMed	1424237	Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. Three childre	421 Bytes	2015-12-01	16	2	-
PubMed	1347968	Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and a	1.84 KB	2015-11-22	16	0	-