Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10484981	Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.	1.73 KB	2015-11-15	17	5	-
PubMed	10519880	Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucoc	1.43 KB	2015-11-15	18	2	-
PubMed	10528860	Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. We report on a boy w	1.65 KB	2015-11-15	18	2	-
PubMed	10571943	Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for	820 Bytes	2015-11-15	16	0	-
PubMed	10607954	Knobloch syndrome involving midline scalp defect of the frontal region. We report on a 4-year-old bo	664 Bytes	2015-11-28	16	7	-
PubMed	10709732	Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or	1.1 KB	2015-11-15	18	1	-
PubMed	10721669	Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. Wilson disease (WD) is a	1.33 KB	2015-11-15	19	5	-
PubMed	10737981	beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in	1.39 KB	2015-11-15	19	0	-
PubMed	10790204	Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: iden	1.5 KB	2015-11-21	18	1	-
PubMed	10797418	Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance	1.26 KB	2015-11-21	14	0	-