Documents (51) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
@dpavot	24357125	Likely haploinsufficiency of one or several of the 19 genes in the common deleted interval (ACTN1, D	555 Bytes	2020-02-21	1	22	-
@dpavot	26944031	Mosaicism was identified for autosomal dominant (JAG1, COL3A1), autosomal recessive (PYGM), and X-li	147 Bytes	2020-02-26	1	9	-
@dpavot	27193597	Mining GWAS databases revealed association of cis-eSNPs for more than 50 genes with T2D (e.g. PIK3C2	213 Bytes	2020-02-26	1	7	-
@dpavot	27807832	TNFAIP8 mRNA is induced by NF-kB, and overexpression of TNFAIP8 has been correlated with poor progno	488 Bytes	2020-02-26	2	6	-
@dpavot	29348457	By using three human tumor cell lines of different tissue origin (epidermoid HEp-3 and prostate PC-3	504 Bytes	2020-02-26	2	6	-
@dpavot	26715604	Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of meta	509 Bytes	2020-02-26	2	6	-
@dpavot	27693232	Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features tha	298 Bytes	2020-02-21	1	5	-
@dpavot	29073155	DNA was extracted from paraffin-embedded tumor specimens from the patients and peripheral blood lymp	160 Bytes	2020-02-26	1	5	-
@dpavot	23086420	Several myotubularins have been genetically linked to human diseases: MTM1 is mutated in the congeni	317 Bytes	2020-02-26	1	5	-
@dpavot	29307790	The aCGH analysis revealed a pathogenic CNV in the 14q11.2 region, while targeted exome sequencing r	275 Bytes	2020-02-26	1	5	-