Fontaine progeroid syndrome—A case report
Lally, Sinéad, Walsh, Nicola, Kenny, Janna, Franklin, Orla, Cotter, Melanie, Richardson, Sarah, McEligott, Fiona, Finan, Alan
Published in Clinical case reports (01.09.2022)
Published in Clinical case reports (01.09.2022)
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Journal Article
A large kindred with X‐linked neutropenia with an I294T mutation of the Wiskott‐Aldrich syndrome gene
Beel, Karolien, Cotter, Melanie M., Blatny, Jan, Bond, Jonathan, Lucas, Geoff, Green, Frances, Vanduppen, Vik, Leung, Daisy W., Rooney, Sean, Smith, Owen P., Rosen, Michael K., Vandenberghe, Peter
Published in British journal of haematology (01.01.2009)
Published in British journal of haematology (01.01.2009)
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Journal Article
P322 Common things are common, except when they’re rare
Cox, Jennifer, Quinn, Shoana, Cotter, Melanie, Irvine, Alan
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia
Brown, Timothy J., Barrett, Neil, Meng, Hu, Ricciotti, Emanuela, McDonnell, Ciara, Dancis, Andrew, Qualtieri, Julianne, FitzGerald, Garret A., Cotter, Melanie, Babushok, Daria V.
Published in Blood (30.03.2023)
Published in Blood (30.03.2023)
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Journal Article
P32 Can you improve knowledge and confidence in common paediatric emergencies using simulation teaching as part of a foundation year teaching program?
Broomfield, Rebecca, Cotter, Melanie, Dunne, John
Published in BMJ simulation & technology enhanced learning (01.11.2018)
Published in BMJ simulation & technology enhanced learning (01.11.2018)
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Journal Article
Therapeutic plasma exchange in paediatric nephrology in Ireland
Wildes, Dermot M., Devlin, Conor, Costigan, Caoimhe Suzanne, Raftery, Tara, Hensey, Conor, Waldron, Mary, Dolan, Niamh, Riordan, Michael, Sweeney, Clodagh, Stack, Maria, Cotter, Melanie, Lynch, Bryan, Gorman, Kathleen Mary, Awan, Atif
Published in Irish journal of medical science (01.06.2024)
Published in Irish journal of medical science (01.06.2024)
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Journal Article
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
Casey, Jillian P., Slattery, Suzanne, Cotter, Melanie, Monavari, A. A., Knerr, Ina, Hughes, Joanne, Treacy, Eileen P., Devaney, Deirdre, McDermott, Michael, Laffan, Eoghan, Wong, Derek, Lynch, Sally Ann, Bourke, Billy, Crushell, Ellen
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Journal Article
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Grünert, Sarah C., Gautschi, Matthias, Baker, Joshua, Boyer, Monica, Burlina, Alberto, Casswall, Thomas, Corpeleijn, Willemijn, Çıki, Kismet, Cotter, Melanie, Crushell, Ellen, Derks, Terry G.J., Haas, Dorothea, Kilavuz, Sebile, Kingma, Sandra D.K., Korman, Stanley H., Kozek, Anne, de Laet, Corinne, Mundy, Helen, Nassogne, Marie Cecile, Quintero, Victor, Rossi, Alessandro, Spenger, Johannes, Spiegel, Ronen, Stephenne, Xavier, Stojkov, Darko, Tal, Galit, Veiga-da Cunha, Maria, Wortmann, Saskia B.
Published in Molecular genetics and metabolism (01.06.2024)
Published in Molecular genetics and metabolism (01.06.2024)
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Journal Article
Catalogue of inherited disorders found among the Irish Traveller population
Lynch, Sally Ann, Crushell, Ellen, Lambert, Deborah M, Byrne, Niall, Gorman, Kathleen, King, Mary D, Green, Andrew, O’Sullivan, Siobhan, Browne, Fiona, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad A, Cotter, Melanie, McConnell, Vivienne P M, Kerr, Bronwyn, Jones, Simon A, Keenan, Catriona, Murphy, Nuala, Cody, Declan, Ennis, Sean, Turner, Jackie, Irvine, Alan D, Casey, Jillian
Published in Journal of medical genetics (01.04.2018)
Published in Journal of medical genetics (01.04.2018)
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Journal Article
To Characterize Standard Laboratory Coagulation Parameters and Plasma Thrombin Generation in Very Preterm Infants and to Investigate Their Relationship to Clinical Outcomes
Neary, Elaine, McCallion, Naomi, Kevane, Barry, Cotter, Melanie, Egan, Karl, Irene, Regan, Ní Áinle, Fionnuala
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
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Journal Article
Similar but different: identical pathology with differing outcome in ‘Not‐so‐identical’ twins
Butler, Grainne H., Flood, Karen, Doyle, Emma, Geary, Mike P., Betts, David R., Foran, Adrienne, O'Marcaigh, Aengus, Cotter, Melanie
Published in British journal of haematology (01.07.2017)
Published in British journal of haematology (01.07.2017)
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Journal Article
Successful treatment with rituximab and mycophenolate mofetil of refractory autoimmune hemolytic anemia post‐hematopoietic stem cell transplant for dyskeratosis congenita due to TINF2 mutation
O'Connell, Niall, Goodyer, Matthew, Gleeson, Mary, Storey, Lorna, Williams, Martina, Cotter, Melanie, O'Marcaigh, Aengus, Smith, Owen
Published in Pediatric transplantation (01.02.2014)
Published in Pediatric transplantation (01.02.2014)
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