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 |
|
10 |
|
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 |
|
14 |
|
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 |
-
|