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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 630 - 637
Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight... 
optic atrophy | iron overload | ARH1 | Auditory neuropathy | iron-sulfur cluster | mitochondria | FDXR | Fe-S cluster synthesis | CLUSTER BIOGENESIS | FRATAXIN | DOMINANT OPTIC ATROPHY | PROTEIN | ADRENODOXIN REDUCTASE | IRON HOMEOSTASIS | GENE | GENETICS & HEREDITY | MECHANISMS | AUDITORY NEUROPATHY | FERREDOXINS | Ferredoxin-NADP Reductase - metabolism | Mitochondrial Diseases - pathology | Mitochondria - enzymology | Saccharomyces cerevisiae - genetics | Humans | Child, Preschool | Iron-Sulfur Proteins - genetics | Male | Hearing Loss, Central - genetics | Genetic Complementation Test | Optic Atrophy - pathology | Saccharomyces cerevisiae - metabolism | Young Adult | Hearing Loss, Central - enzymology | Mitochondria - genetics | Ferredoxin-NADP Reductase - genetics | Adult | Female | Optic Atrophy - genetics | Mitochondrial Diseases - genetics | Amino Acid Sequence | Mitochondria - pathology | Saccharomyces cerevisiae Proteins - genetics | Iron - metabolism | Mitochondrial Diseases - enzymology | Sequence Alignment | Pedigree | Adolescent | Saccharomyces cerevisiae Proteins - metabolism | Iron-Sulfur Proteins - metabolism | Ferredoxin-NADP Reductase - chemistry | Mutation | Hearing Loss, Central - pathology | Optic Atrophy - enzymology | Saccharomyces cerevisiae - growth & development | Usage | Gene mutations | Analysis | Genetic aspects | Nucleotide sequencing | Research | Children | Gene expression | Health aspects | DNA sequencing | Hearing loss | Report
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 151 - 159
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 666 - 673
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2010, Volume 1802, Issue 9, pp. 765 - 773
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 7, pp. E1564 - E1573
Journal Article
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2012, Volume 35, Issue 6, pp. 1119 - 1128
Journal Article