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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Choanal Atresia* / diagnosis
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Choanal Atresia* / genetics
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Choanal Atresia* / physiopathology
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Choanal Atresia* / therapy
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Coloboma* / diagnosis
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Coloboma* / genetics
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Coloboma* / physiopathology
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Coloboma* / therapy
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DNA Helicases / genetics
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DNA-Binding Proteins / genetics
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Diagnosis, Differential
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Ear / abnormalities
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Genitalia / abnormalities*
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Heart Defects, Congenital* / diagnosis
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Heart Defects, Congenital* / genetics
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Heart Defects, Congenital* / physiopathology
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Heart Defects, Congenital* / therapy
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Humans
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Intellectual Disability* / diagnosis
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Intellectual Disability* / genetics
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Intellectual Disability* / physiopathology
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Intellectual Disability* / therapy
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Mutation
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Prognosis
Substances
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DNA-Binding Proteins
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DNA Helicases
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CHD7 protein, human