Profound hyperlipidaemia due to concomitant diabetes and hypothyroidism

Por Samaan, M Constantine, Murphy, Nuala, Costigan, Colm
Publicado em 2010

Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion

Por O'Grady, Michael J, Monavari, Ahmad A, Cotter, Melanie, Murphy, Nuala P
Publicado no BMJ Case Rep (2015)

A smartphone intervention for adolescent obesity: study protocol for a randomised controlled non-inferiority trial

Por O’Malley, Grace, Clarke, Mike, Burls, Amanda, Murphy, Sinéad, Murphy, Nuala, Perry, Ivan J
Publicado em 2014

Dietary Antioxidants Decrease Serum Soluble Adhesion Molecule (sVCAM-1, sICAM-1) but not Chemokine (JE/MCP-1, KC) Concentrations, and Reduce Atherosclerosis in C57BL but Not ApoE*3...

Por Murphy, Nuala, Grimsditch, David C, Vidgeon-Hart, Martin, Groot, Pieter H.E., Overend, Philip, Benson, G. Martin, Graham, Annette
Publicado em 2005

Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients

Por Sahakitrungruang, Taninee, Huang, Ningwu, Tee, Meng Kian, Agrawal, Vishal, Russell, William E., Crock, Patricia, Murphy, Nuala, Migeon, Claude J., Miller, Walter L.
Publicado em 2009

Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis: A prospective cohort study

Por O'Riordan, Stephen M.P., Hindmarsh, Peter, Hill, Nathan R., Matthews, David R., George, Sherly, Greally, Peter, Canny, Gerard, Slattery, Dubhfeasa, Murphy, Nuala, Roche, Edna, Costigan, Colm, Hoey, Hilary
Publicado em 2009

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

Por Salomon-Estebanez, Maria, Flanagan, Sarah E., Ellard, Sian, Rigby, Lindsey, Bowden, Louise, Mohamed, Zainab, Nicholson, Jacqueline, Skae, Mars, Hall, Caroline, Craigie, Ross, Padidela, Raja, Murphy, Nuala, Randell, Tabitha, Cosgrove, Karen E., Dunne, Mark J., Banerjee, Indraneel
Publicado no Orphanet J Rare Dis (2016)

Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

Por Flanagan, Sarah E., Xie, Weijia, Caswell, Richard, Damhuis, Annet, Vianey-Saban, Christine, Akcay, Teoman, Darendeliler, Feyza, Bas, Firdevs, Guven, Ayla, Siklar, Zeynep, Ocal, Gonul, Berberoglu, Merih, Murphy, Nuala, O’Sullivan, Maureen, Green, Andrew, Clayton, Peter E., Banerjee, Indraneel, Clayton, Peter T., Hussain, Khalid, Weedon, Michael N., Ellard, Sian
Publicado em 2013

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Por Flanagan, Sarah E., Haapaniemi, Emma, Russell, Mark A., Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J., Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P., Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G., Ellard, Sian, Hattersley, Andrew T.
Publicado em 2014