Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

par Ewing, Adam D., Cheetham, Seth W., McGill, James J., Sharkey, Michael, Walker, Rick, West, Jennifer A., West, Malcolm J., Summers, Kim M.
Publié dans Am J Med Genet A (2021)

Polyclonal T-Cells Express CD1a in Langerhans Cell Histiocytosis (LCH) Lesions

par West, Jennifer A., Olsen, Sharon L., Mitchell, Jenée M., Priddle, Ross E., Luke, Jennifer M., Åkefeldt, Selma Olsson, Henter, Jan-Inge, Turville, Christopher, Kannourakis, George
Publié 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

par McInerney-Leo, Aideen M, Marshall, Mhairi S, Gardiner, Brooke, Coucke, Paul J, Van Laer, Lut, Loeys, Bart L, Summers, Kim M, Symoens, Sofie, West, Jennifer A, West, Malcolm J, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L
Publié 2013