학술논문
'학술논문'
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1~10
Academic Journal
In The Journal of Pediatrics February 2019 205:77-82
Academic Journal
Purcell, Orla; Coughlan, Aoife; Grant, Tim; McNulty, Jenny; Clark, Anne; Deverell, Deirdre; Mayne, Philip; Hughes, Joanne; Monavari, Ahmad; Knerr, Ina; Crushell, Ellen
Academic Journal
O'Reilly, Daniel; Crushell, Ellen; Hughes, Joanne; Ryan, Stephanie; Rogers, Yvonne; Borovickova, Ingrid; Mayne, Philip; Riordan, Michael; Awan, Atif; Carson, Kevin; Hunter, Kim; Lynch, Bryan; Shahwan, Amre; Rüfenacht, Véronique; Häberle, Johannes; Treacy, Eileen P.; Monavari, Ahmad A.; Knerr, Ina
Journal of Inherited Metabolic Disease; May2021, Vol. 44 Issue 3, p639-655, 17p
Academic Journal
Academic Journal
McGarrigle, Sarah A.; O'Neill, Sarah; Walsh, Geraldine M.; Moran, Niamh; Graham, Ian M.; Cooney, Marie-Therese; Monavari, Ahmad; Mayne, Philip; Collins, Patrick
Kalim, Attia; Fitzsimons, Patricia; Till, Claudia; Fernando, Malkanthi; Mayne, Philip; Sass, Jorn Oliver; Crushell, Ellen
In Brain and Development June 2017 39(6):536-538
Academic Journal
Murphy, Miriam; McHugh, Brian; Tighe, Orna; Mayne, Philip; O'Neill, Charles; Naughten, Eileen; Croke, David T
Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency.
Academic Journal
Knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begona; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, Ian; Rodríguez‐Pombo, Pilar; Olpin, Simon E.
Journal of Inherited Metabolic Disease; Sep2019, Vol. 42 Issue 5, p809-817, 9p
Academic Journal
Academic Journal
Morris, Andrew; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg; Chakrapani, Anupam; Crushell, Ellen; Henderson, Mick; Hochuli, Michel; Huemer, Martina; Janssen, Miriam; Maillot, Francois; Mayne, Philip; McNulty, Jenny; Morrison, Tara; Ogier, Helene; O'Sullivan, Siobhan; Pavlíková, Markéta; Almeida, Isabel; Terry, Allyson
Journal of Inherited Metabolic Disease; Jan2017, Vol. 40 Issue 1, p49-74, 26p
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[AR] Mayne, Philip
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