Search Results - "LAW, ROSALIND"
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Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
Published in American journal of human genetics (04-12-2014)“…Dendritic spines represent the major site of neuronal activity in the brain; they serve as the receiving point for neurotransmitters and undergo rapid…”
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Journal Article -
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New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse
Published in American journal of medical genetics. Part A (01-06-2015)“…Latent TGFB‐binding protein 3 (LTBP3) is known to increase bio‐availability of TGFB. A homozygous mutation in this gene has previously been associated with…”
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Journal Article -
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Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene
Published 01-01-2014“…Individuals with ID and autism were identified carrying copy number variations within the autosomal recessive intellectual disability gene TRAPPC9 (chr8q24.3)…”
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Dissertation -
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Foreign Marriages
Published in Times (London, England : 1788) (05-09-1924)Get full text
Newspaper Article