No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase / genetics*
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Agammaglobulinemia / complications*
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Agammaglobulinemia / diagnosis
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Agammaglobulinemia / genetics
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Autoimmune Diseases of the Nervous System / complications*
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Autoimmune Diseases of the Nervous System / diagnosis
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Autoimmune Diseases of the Nervous System / genetics
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Child
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Consanguinity
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Exome Sequencing
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Genetic Diseases, X-Linked / complications*
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics
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Humans
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Male
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Nervous System Malformations / complications*
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Nervous System Malformations / diagnosis
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Nervous System Malformations / genetics
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Ribonuclease H / genetics*
Substances
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Agammaglobulinaemia Tyrosine Kinase
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BTK protein, human
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ribonuclease HII
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Ribonuclease H
Supplementary concepts
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Aicardi-Goutieres syndrome
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Bruton type agammaglobulinemia