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European Journal of Human Genetics, ISSN 1018-4813, 03/2019, Volume 27, Issue 3, pp. 466 - 474
Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian... 
COMPLEX | BETA GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | GENETICS & HEREDITY | HUMAN Y-CHROMOSOME | RESISTANCE | DEAFNESS | THYROID-HORMONE RECEPTOR | PROTEINS | ORGAN | Hearing | Clonal deletion | Pedigree | Protein folding | Hyperplasia | Cochlea | Heredity | Gene deletion | Hearing impairment | Prostate | Hearing loss | Hereditary diseases | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2011, Volume 108, Issue 16, pp. 6543 - 6548
Perrault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss. In a nonconsanguineous... 
Enzymes | Yeasts | Mitochondria | Phenotypes | Sensorineural hearing loss | Medical genetics | Amino acids | Genetic mutation | Transfer RNA | Apoptosis | NERVOUS-SYSTEM INVOLVEMENT | APOPTOSIS | MARIE-TOOTH-DISEASE | CAENORHABDITIS-ELEGANS | NEUROPATHY | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | DEAFNESS | GENE ENCODES | AMINOACYLATION | SACCHAROMYCES-CEREVISIAE | Amino Acyl-tRNA Synthetases - genetics | Histidine-tRNA Ligase - metabolism | Gonadal Dysgenesis, 46,XX - genetics | Caenorhabditis elegans - genetics | Saccharomyces cerevisiae - genetics | Alternative Splicing - genetics | Humans | Male | Hearing Loss, Sensorineural - genetics | Mitochondrial Proteins - genetics | Mutation, Missense | Gonadal Dysgenesis, 46,XX - enzymology | Histidine-tRNA Ligase - genetics | Animals | Mitochondrial Proteins - metabolism | Hearing Loss, Sensorineural - enzymology | Saccharomyces cerevisiae - enzymology | Amino Acyl-tRNA Synthetases - metabolism | Caenorhabditis elegans - enzymology | Amino Acid Substitution | Ovarian diseases | Causes of | Physiological aspects | Genetic aspects | Mitochondrial DNA | Hearing loss | Deafness | Yeast | Nematodes | Mutation | Causality | Aminoacylation | Translation | tRNA | RNA-mediated interference | Data processing | Lethality | Nucleotides | Gene deletion | Deletion mutant | Hereditary diseases | Heterozygosity | Gonadal dysgenesis | Fertility | genomics | Codons | Linkage analysis | Siblings | Index Medicus | Biological Sciences
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2011, Volume 43, Issue 6, pp. 595 - 600
Journal Article
Human Mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 812 - 819
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2014, Volume 16, Issue 4, pp. 347 - 355
Journal Article
Human Mutation, ISSN 1059-7794, 01/2019, Volume 40, Issue 1, pp. 53 - 72
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2017, Volume 12, Issue 11, pp. e0188103 - e0188103
Journal Article