Suchergebnisse - Murphy, Nuala

Profound hyperlipidaemia due to concomitant diabetes and hypothyroidism von Samaan, M Constantine, Murphy, Nuala, Costigan, Colm

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Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion von O'Grady, Michael J, Monavari, Ahmad A, Cotter, Melanie, Murphy, Nuala P

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A smartphone intervention for adolescent obesity: study protocol for a randomised controlled non-inferiority trial von O’Malley, Grace, Clarke, Mike, Burls, Amanda, Murphy, Sinéad, Murphy, Nuala, Perry, Ivan J

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Children and young people’s experiences and perceptions of self-management of type 1 diabetes: A qualitative meta-synthesis von Tuohy, Ella, Rawdon, Caroline, Gallagher, Pamela, Glacken, Michele, Murphy, Nuala, Swallow, Veronica, Lambert, Veronica

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

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Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients von Sahakitrungruang, Taninee, Huang, Ningwu, Tee, Meng Kian, Agrawal, Vishal, Russell, William E., Crock, Patricia, Murphy, Nuala, Migeon, Claude J., Miller, Walter L.

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Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience von Boruah, Ritma, Monavari, Ahmad Ardeshir, Conlon, Tracey, Murphy, Nuala, Stroiescu, Andreea, Ryan, Stephanie, Hughes, Joanne, Knerr, Ina, McDonnell, Ciara, Crushell, Ellen

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

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

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

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Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group von Hewat, Thomas I., Laver, Thomas W., Houghton, Jayne A. L., Männistö, Jonna M. E., Alvi, Sabah, Brearey, Stephen P., Cody, Declan, Dastamani, Antonia, De los Santos La Torre, Miguel, Murphy, Nuala, Rami‐Merhar, Birgit, Wefers, Birgit, Huopio, Hanna, Banerjee, Indraneel, Johnson, Matthew B., Flanagan, Sarah E.

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

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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency von Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.

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