No abstract available
Publication types
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Letter
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alleles
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Base Sequence
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DNA / chemistry
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DNA / genetics
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DNA Helicases*
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DNA Mutational Analysis
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Face / abnormalities*
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Family Health
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Female
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Genetic Linkage
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Humans
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Intellectual Disability / genetics*
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Intellectual Disability / pathology
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Male
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Nuclear Proteins / genetics
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Pedigree
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Point Mutation
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Syndrome
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X Chromosome / genetics*
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X-linked Nuclear Protein
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alpha-Thalassemia / genetics*
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alpha-Thalassemia / pathology
Substances
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Nuclear Proteins
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DNA
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DNA Helicases
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ATRX protein, human
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X-linked Nuclear Protein