Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	318684	Hereditary deficiency of the third component of complement in a child with fever, skin rash, and art	1.81 KB	2015-03-12	14	5	-
PubMed	7422429	Nephropathy in the Wiskott-Aldrich syndrome. Nephropathy was detected in five of 32 patients with th	928 Bytes	2015-03-12	15	0	-
PubMed	8723064	Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected	811 Bytes	2015-11-27	32	0	-
PubMed	1376553	New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher di	831 Bytes	2015-11-18	16	0	-
PubMed	8659522	Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gen	1.86 KB	2015-11-27	33	0	-
PubMed	777027	Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-d	1.91 KB	2015-12-04	16	11	-
PubMed	1302032	Fragile X syndrome without CCG amplification has an FMR1 deletion. We describe a patient with typica	756 Bytes	2015-11-18	16	0	-
PubMed	9028321	Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular	1.24 KB	2015-11-28	33	2	-
PubMed	8522307	Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis. Papillary	1.49 KB	2015-11-27	16	4	-
PubMed	2569949	Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families. We hav	795 Bytes	2015-11-26	14	0	-