TEST-CellLine

Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	14510914	Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. OBJECTIVE: Iodide transport defect (ITD) is a rare disorder characterised by an inability of the thyroid to main	1.88 KB	2015-11-18	30	1	2021-12-23
PubMed	15041272	A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were st	1.53 KB	2015-11-18	34	0	2021-12-23
PubMed	15096016	Pallidal stimulation: an alternative to pallidotomy? A resurgence of interest in the surgical treatment of Parkinson's disease (PD) came with the rediscovery of posteroventral pallidotomy by Laitinen	1.33 KB	2021-12-23	24	0	2021-12-23
PubMed	15099351	Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholeste	1.09 KB	2015-11-18	11	0	2021-12-23
PubMed	15122708	Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologi	1.53 KB	2015-11-18	10	6	2021-12-23
PubMed	15188772	Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catech	830 Bytes	2017-09-04	9	0	2021-12-23
PubMed	15614572	Effects of the antidepressant trazodone, a 5-HT 2A/2C receptor antagonist, on dopamine-dependent behaviors in rats. RATIONALE: 5-Hydroxytryptamine, via stimulation of 5-HT 2C receptors, exerts a tonic	1.92 KB	2015-11-22	7	0	2021-12-23
PubMed	15623763	TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. PURPOSE: To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or gr	1.89 KB	2015-11-18	12	0	2021-12-23
PubMed	15818664	Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracel	2.28 KB	2015-11-19	10	0	2021-12-23
PubMed	15824163	No Evidence for BRAF as a melanoma/nevus susceptibility gene. Somatic mutations of BRAF have been identified in both melanoma tumors and benign nevi. Germ line mutations in BRAF have not been identifi	1.75 KB	2025-10-02	14	0	2021-12-23