Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10827108	Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by sepa	1.43 KB	2015-11-21	16	1	-
PubMed	10842298	Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen	1.26 KB	2015-11-21	16	0	-
PubMed	2828430	Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular	1.13 KB	2015-11-27	18	1	-
PubMed	1776638	Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. We described a	576 Bytes	2015-12-25	15	2	-
PubMed	7811247	X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family prese	984 Bytes	2015-11-27	38	0	-
PubMed	2352258	Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic c	1.28 KB	2016-01-11	17	0	-
PubMed	1409710	von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Will	1.36 KB	2015-11-18	16	2	-
PubMed	8554067	A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. We have analyzed 20 breast	1.22 KB	2015-11-27	15	6	-
PubMed	1384323	A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screenin	1.27 KB	2015-11-18	18	0	-
PubMed	9674903	Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of famili	1.79 KB	2015-11-27	32	3	-