Search Results - "Law, Rosalind"

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability by Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.

“…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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New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse by Dugan, Sarah L., Temme, Renee T., Olson, Rebecca A., Mikhailov, Anna, Law, Rosalind, Mahmood, Huda, Noor, Abdul, Vincent, John B.

“…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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Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene by Law, Rosalind

“…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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New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse by Dugan, Sarah L, Temme, Renee T, Olson, Rebecca A, Mikhailov, Anna, Law, Rosalind, Mahmood, Huda, Noor, Abdul, Vincent, John B

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Foreign Marriages by LAW, ROSALIND

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