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JAMA Otolaryngology - Head and Neck Surgery, ISSN 2168-6181, 03/2019, Volume 145, Issue 3, pp. 229 - 230
Journal Article
04/2016, Monographs in human genetics, ISBN 9783318058550, Volume 20, 158
Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest... 
Deafness | Genetic aspects
eBook
Journal Article
Monographs in Human Genetics, ISSN 0077-0876, 2016, Volume 20, pp. IX - X
Journal Article
Frontiers in neuroscience, ISSN 1662-4548, 2017, Volume 11, p. 236
Tinnitus is the perception of a phantom sound that affects between 10 and 15% of the general population. Despite this considerable prevalence, treatments for... 
Journal Article
Human Genetics, ISSN 0340-6717, 2/2018, Volume 137, Issue 2, pp. 111 - 127
Journal Article
BMC Research Notes, ISSN 1756-0500, 06/2018, Volume 11, Issue 1, pp. 391 - 4
Journal Article
Human Genetics, ISSN 0340-6717, 7/2018, Volume 137, Issue 6, pp. 479 - 486
Journal Article
BMC medical genetics, ISSN 1471-2350, 11/2018, Volume 19, Issue 1, pp. 196 - 16
BackgroundIARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their... 
CAGSSS | Cataracts | Adrenal insufficiency | Type II esophageal achalasia | Sensorineural hearing loss | Growth hormone deficiency | IARS2 | Sensory neuropathy | Skeletal dysplasia | TRANSFER-RNA SYNTHETASES | PREDICTION | GENETIC-VARIATION | IMPACT | NEUROPATHY | DATABASE | MUTATION | GENETICS & HEREDITY | Mitochondrial Diseases - pathology | Humans | Cataract - pathology | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Leigh Disease - pathology | Bone Diseases, Developmental - pathology | Hearing Loss, Sensorineural - diagnosis | Isoleucine-tRNA Ligase - genetics | Adult | Female | Bone Diseases, Developmental - diagnosis | Protein Subunits - genetics | Mitochondrial Diseases - genetics | Amino Acid Sequence | Gene Expression | Cataract - diagnosis | Hearing Loss, Sensorineural - pathology | Hereditary Sensory and Autonomic Neuropathies - pathology | Models, Molecular | Hearing Loss, Sensorineural - genetics | Leigh Disease - genetics | Syndrome | Whole Exome Sequencing | Homozygote | Pedigree | Cataract - genetics | Hereditary Sensory and Autonomic Neuropathies - genetics | Protein Conformation | Consanguinity | Leigh Disease - diagnosis | Hereditary Sensory and Autonomic Neuropathies - diagnosis | Mitochondrial Diseases - diagnosis | Development and progression | Mitochondrial diseases | Genetic aspects | Aminoacyl-tRNA synthetases | Health aspects | Pediatrics | Genes | Amino acids | Homology | Mitochondrial DNA | Neuropathy | Proteins | Genotype & phenotype | Isoleucine-tRNA ligase | Mitochondria | Enzymatic activity | Fibroblasts | Bone dysplasia | Skeleton | Bioinformatics | Deoxyribonucleic acid--DNA | Enzymes | Phenotypes | Dysplasia | tRNA | Data processing | Heredity | Hearing impairment | Patients | Esophagus | Hearing loss | Oxidative phosphorylation | Growth hormones | Achalasia | Mutation | Growth hormone | Electron transport | Protein structure
Journal Article