Viewpoint
|
Open Access
Featured
-
-
Article |
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations
- Aisha Nazli
- , Adeel Safdar
- & Mark A Tarnopolsky
-
Clinical Utility Gene Card |
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]
- Martina Witsch-Baumgartner
- , Hilary Sawyer
- & Dorothea Haas
-
Article |
Worldwide spatial genetic structure of angiotensin-converting enzyme gene: a new evolutionary ecological evidence for the thrifty genotype hypothesis
- Xiao Li
- , Xiubin Sun
- & Fuzhong Xue
-
Article |
Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease
- Åsa Johansson
- , Joanne E Curran
- & John Blangero
-
Clinical Utility Gene Card |
Clinical utility gene card for: hypophosphatasia
- Etienne Mornet
- , Christine Beck
- & Martine Le Merrer
-
Article |
FGF21 signalling pathway and metabolic traits – genetic association analysis
- Bernhard M Kaess
- , Timothy A Barnes
- & Maciej Tomaszewski
-
Short Report |
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
- Fanny Mochel
- , Sandrine Duteil
- & Alexandra Durr
-
Short Report |
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
- Alessandra Pontillo
- , Elisa Paoluzzi
- & Sergio Crovella