No abstract available
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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17-Hydroxysteroid Dehydrogenases / genetics
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Amino Acyl-tRNA Synthetases / genetics
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Developmental Disabilities / complications
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Developmental Disabilities / genetics
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Family Health
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Female
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Genetic Heterogeneity*
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Gonadal Dysgenesis, 46,XX / complications
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Gonadal Dysgenesis, 46,XX / diagnosis
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Gonadal Dysgenesis, 46,XX / genetics*
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Hearing Loss, Sensorineural / complications
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Hearing Loss, Sensorineural / diagnosis
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Hearing Loss, Sensorineural / genetics*
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Humans
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Hydro-Lyases / genetics
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Learning Disabilities / complications
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Learning Disabilities / genetics
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Male
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Mutation / genetics
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Peroxisomal Multifunctional Protein-2
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Phenotype
Substances
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17-Hydroxysteroid Dehydrogenases
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Hydro-Lyases
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Peroxisomal Multifunctional Protein-2
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HSD17B4 protein, human
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Amino Acyl-tRNA Synthetases
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HARS2 protein, human
Supplementary concepts
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Gonadal dysgenesis XX type deafness