Documents (787) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10094559	Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.	789 Bytes	2015-11-20	8	4	-
PubMed	10190331	Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.	884 Bytes	2015-11-15	10	14	-
PubMed	10190819	Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-link	2.59 KB	2015-11-17	9	22	-
PubMed	10192399	The Pendred syndrome gene encodes a chloride-iodide transport protein. Pendred syndrome is the most	1.47 KB	2015-11-15	10	10	-
PubMed	10194428	HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form o	1.29 KB	2015-11-17	12	13	-
PubMed	10196379	Germline BRCA1 alterations in a population-based series of ovarian cancer cases. The objective of th	1.56 KB	2015-11-15	12	12	-
PubMed	10196381	Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein de	1.42 KB	2015-11-15	11	9	-
PubMed	10198641	Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BR	980 Bytes	2015-11-17	9	4	-
PubMed	10200300	Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndro	882 Bytes	2015-11-15	12	6	-
PubMed	10205262	Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a	1.28 KB	2015-11-15	13	7	-