Associated Papers
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis.
Donato L et al.
Heliyon, 2024
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Guimaraes TAC et al.
The British Journal of Ophthalmology, 2023
A Review of Secondary Photoreceptor Degenerations in Systemic Disease.
Mysore N et al.
Cold Spring Harbor Perspectives in Medicine, 2014
The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.
Arbustini E et al.
Journal of the American College of Cardiology, 2013
The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.
Arbustini E et al.
Global Heart, 2013
Endocrine manifestations related to inherited metabolic diseases in adults.
Vantyghem MC et al.
Orphanet Journal of Rare Diseases, 2012
Genetic disorders with both hearing loss and cardiovascular abnormalities.
Belmont JW et al.
Advances in Oto-rhino-laryngology, 2011
Neurodegenerative disorders associated with diabetes mellitus.
Ristow M
Journal of Molecular Medicine (berlin, Germany), 2004
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