Documents (500) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	22174939	RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. Rare (RVs) and	1.4 KB	2016-01-05	4	0	-
PubMed	22048266	Exploratory investigation on functional significance of ETS2 and SIM2 genes in Down syndrome. Trisom	1.34 KB	2015-11-26	11	4	-
PubMed	21790735	A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditar	1.01 KB	2016-01-01	10	0	-
PubMed	21976953	Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. PURPOSE: To i	1.71 KB	2015-11-26	27	3	-
PubMed	20728296	Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.	789 Bytes	2016-01-04	9	0	-
PubMed	21103668	Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VI	1.51 KB	2015-11-25	7	0	-
PubMed	20651814	Lack of association between ADRA2B-4825 gene insertion/deletion polymorphism and migraine in Chinese	1.02 KB	2015-11-25	27	0	-
PubMed	20113448	Development and validation of a SYBR Green I-based real-time polymerase chain reaction method for de	1.51 KB	2015-11-25	5	0	-
PubMed	19897031	An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk associ	1.61 KB	2015-11-25	13	4	-
PubMed	19681861	Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MM	1.78 KB	2015-11-25	4	1	-