Search Results - "Khoshaeen, A."

  • Showing 1 - 3 results of 3
Refine Results
  1. 1
    A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome

    A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome by Khoshaeen, A., Najafi, M., Mahdavi, M. R., Jalali, H., Mahdavi, M.

    Published in Journal of genetics (01-12-2020)
    “…The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  2. 2
    An ultra-rare mutation (C.181C>T) in GALNS gene associated with Morquio syndrome: A case report

    An ultra-rare mutation (C.181C>T) in GALNS gene associated with Morquio syndrome: A case report by Khoshaeen, A., Mahdavi, M.R., Najafi, M., Jalali, H., Mahdavi, M.

    Published in Gene reports (01-12-2019)
    Get full text
    Journal Article
    Save to List
    Saved in:
  3. 3
    Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

    Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome by Kariminejad, Ariana, Almadani, Navid, Khoshaeen, Atefeh, Olsson, Bjorn, Moslemi, Ali-Reza, Tajsharghi, Homa

    Published in BMC genetics (31-05-2016)
    “…In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND…”
    Get full text
    Journal Article
    Save to List
    Saved in:

Search Tools: