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

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

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

по 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
Опубликовано 2014

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

по 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
Опубликовано 2013