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Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2009, Volume 360, Issue 19, pp. 1960 - 1970
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2009, Volume 106, Issue 14, pp. 5842 - 5847
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
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The American Journal of Human Genetics, ISSN 0002-9297, 11/2012, Volume 91, Issue 5, pp. 872 - 882
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Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 435 - 444
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The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
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The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 685 - 695
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