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The Basser Center for BRCA at Penn Medicine is the first comprehensive center for the research, treatment, and prevention of BRCA-related cancers.
A Yale-led research team used a new gene editing strategy to correct mutations that cause thalassemia, a form of anemia. Their gene editing technique provided corrections to the mutations and alleviat...
Two German sisters aged 14 and 17 y were admitted to the Tübingen eye hospital with a history of night blindness. In both siblings, plasma retinol binding protein (RBP) concentrations were below th...
Biesalski et al (1) present a novel case of 2 sisters aged 14 and 17 y with very low plasma retinol concentrations (0.19 mmol/L) and plasma concentrations of retinol binding protein (RBP) below the...
Seemingly similar cells often have significantly different genomes. This is often true of cancer cells, for example, which may differ one from another even within a small tumor sample, as genetic muta...
The information gained from sequencing of the human genome has begun to transform human biology and genetic medicine. The discovery of functionally important genetic variation lies at the heart of the...
Genetic testing is a useful means of identifying individuals who are at an increased risk of developing familial cancer. This information assists such individuals to make lifestyle alterations and ...
Background: Epidemiological studies indicate that over the past forty years, the stroke incidence rates has increased. Factors V and II mutations are established genetic-variant risk factors for venou...
Early gastric carcinomas may develop with a molecular profile differing from sporadic carcinomas occurring at a later age. In this study, we analyzed a retrospective series of 88 patients with gastric...
Beta Thalassemia major is a genetic disease with an autosomal recessive pattern and is differentiated by severe microcytic hypochromic hemolytic anemia with hepatosplenomegaly, ineffective erythropoie...
The colorectal cancer is the forth prevalent cancer worldwide. The incidence and mortality of colorectal cancer (CRC) in men and women has been estimated more than 1.233 million cases and nearly 61000...
Background and the purpose of the study: The low affinity penicillin-binding protein (PBP) 5 of Enterococcus faecium is responsible for intrinsic resistance to beta-lactam antibiotics. This study was ...
New work by MIT cancer biologists shows that the interplay between two key genes that are often defective in tumors determines how cancer cells respond to chemotherapy.The findings should have an imme...
Lung cancer is the major cancer in Turkey; 45% of the deaths due to cancer in Turkish males are from lung cancer. There are 8 histopathological types of lung cancer, and most types have several genomi...
The phenotypic actions of the oligotriche gene mutation on testicular function have not been elucidated, although it is known that male mice homozygous for the mutation are infertile. In the present...

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