Associated Papers
Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.
Salman OF et al.
Frontiers in Cardiovascular Medicine, 2018
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Cañueto J et al.
Biochimica Et Biophysica Acta, 2014
Mutation analysis of WNT10B in obese children, adolescents and adults.
Van Camp JK et al.
Endocrine, 2013
No important role for genetic variation in the Chibby gene in monogenic and complex obesity.
Van Camp JK et al.
Molecular Biology Reports, 2013
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J et al.
The British Journal of Dermatology, 2012
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock NV et al.
The Journal of Investigative Dermatology, 2003
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