No abstract available
MeSH terms
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Abnormalities, Multiple* / diagnosis
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Abnormalities, Multiple* / genetics
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Abnormalities, Multiple* / physiopathology
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Abnormalities, Multiple* / therapy
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Child
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Developmental Disabilities* / diagnosis
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Developmental Disabilities* / genetics
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Developmental Disabilities* / physiopathology
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Developmental Disabilities* / therapy
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Diagnosis, Differential
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Female
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Genetic Diseases, X-Linked
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Humans
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Hypothyroidism* / diagnosis
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Hypothyroidism* / genetics
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Hypothyroidism* / physiopathology
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Hypothyroidism* / therapy
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Mutation
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Nose / abnormalities*
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Prognosis
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Scalp / abnormalities*
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Syndrome
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Tooth Loss* / diagnosis
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Tooth Loss* / genetics
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Tooth Loss* / physiopathology
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Tooth Loss* / therapy
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Ubiquitin-Protein Ligases / genetics
Substances
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UBR1 protein, human
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Ubiquitin-Protein Ligases