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European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1730 - 1738
Journal Article
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1354 - 1362
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2019, Volume 95, Issue 1, pp. 177 - 181
Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the... 
LHFPL5 | vestibular areflexia | profound deafness | WES | founder effect | Reunion Island | HEARING-LOSS | TMHS | GENE | RNA | GENETICS & HEREDITY | MUTATIONS | Deafness | Analysis | Genetic disorders | Phenotypes | Temporal bone | Vestibular system | Children | Lipoma
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
EMBO Molecular Medicine, ISSN 1757-4676, 07/2014, Volume 6, Issue 7, pp. 984 - 992
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 07/2014, Volume 6, Issue 7, pp. 984 - 992
Protocadherin‐15 (Pcdh15) is a component of the tip‐links, the extracellular filaments that gate hair cell mechano‐electrical transduction channels in the... 
Deafness | Filaments | Protocadherin | Hair cells | Isoforms | Frameshift mutation | CD3 antigen | Gene therapy | Inner ear | Defects
Journal Article
Solar Energy, ISSN 0038-092X, 03/2017, Volume 144, pp. 310 - 320
To allow social and economic development of arid and isolated areas of Algeria, which represent 87% of the total area, one must provide energy and water. The... 
Photovoltaic (PV) | PV-pumping system | Motor-pump | Experimental measurements | PHOTOVOLTAIC ARRAY | RENEWABLE ENERGY | ENERGY & FUELS | OPTIMIZATION | WATER | Motors | Mathematical models | Arid zones | Pumps | Solar energy
Journal Article
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