A case report of multiple cerebral abscess formation complicating serogroup B Neisseria meningitidis meningitis

Por O’Connor, Ciara, Collins, Aedin, Twomey, Eilish, Hensey, Conor, Caird, John, Gavin, Patrick J.
Publicado no BMC Infect Dis (2019)

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Por Casey, Jillian P., Crushell, Ellen, Thompson, Kyle, Twomey, Eilish, He, Langping, Ennis, Sean, Philip, Roy K., Taylor, Robert W., King, Mary D., Lynch, Sally Ann
Publicado no JIMD Rep (2015)

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Por Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Publicado no Am J Med Genet A (2018)