Báo cáo y học: "Novel mutation in YMDD motif and direct neighbourhood in a child with chronic HBV-infection and clinical lamivudine and adefovir resistance - a scholarly case"

Báo cáo y học: "Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity"

8 p | 63 | 8

báo cáo khoa học: "Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene"

7 p | 67 | 4

Báo cáo y học: "A Melanesian -thalassemia mutation suggests a novel mechanism for regulating gene expression"

3 p | 44 | 4

Báo cáo khoa học: "Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report"

6 p | 54 | 3

Báo cáo y học: " Infection with hepatitis B virus carrying novel pre-S/S gene mutations in female siblings vaccinated at birth: two case reports"

5 p | 54 | 3

Báo cáo y học: "A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report"

4 p | 53 | 3

Báo cáo y học: " Full genome re-sequencing reveals a novel circadian clock mutation in Arabidopsis"

12 p | 47 | 2