检索结果 - Philip Mayne

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  1. 1
    Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

    Incidence of Congenital Hypothyroidism Over 37 Years in Ireland 由 Niamh McGrath, Colin P. Hawkes, Ciara McDonnell, Declan Cody, Susan O’Çonnell, Philip Mayne, Nuala Murphy

    出版 2018
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    Artigo
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  2. 2
    Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study

    Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study 由 Peadar N. Kirke, James L. Mills, Anne M. Molloy, Lawrence C. Brody, Valerie B. O’Leary, Leslie Daly, Sharon C. Murray, Mary Conley, Philip Mayne, O Smith, John M. Scott

    出版 2004
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    Artigo
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  3. 3
    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency 由 Patricia Fitzsimons, Charlotte L. Alston, Penelope E. Bonnen, Joanne Hughes, Ellen Crushell, Michael T. Geraghty, Martine Tétreault, Peter M.R. O’Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders, Robert W. Taylor, James Pitt, Philip Mayne

    出版 2018
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    Artigo
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  4. 4
    Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency

    Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency 由 Andrew A. M. Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg Ben‐Omran, Anupam Chakrapani, Ellen Crushell, Mick Henderson, Michel Hochuli, Martina Huemer, Miriam C Janssen, F. Maillot, Philip Mayne, Jenny McNulty, Tara M. Morrison, Hélène Ogier, Siobhán O’Sullivan, Markéta Pavlı́ková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J. Blom, Kimberly A. Chapman

    出版 2016
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    Revisão
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  5. 5
    Newborn screening for homocystinurias: Recent recommendations versus current practice

    Newborn screening for homocystinurias: Recent recommendations versus current practice 由 Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková, Sofía Gouveia, Antònia Ribes, Stefan Kölker, Henk J. Blom, Matthias R. Baumgartner, Josef Bártl, Carlo Dionisi‐Vici, Florian Gleich, Andrew A. M. Morris, Viktor Kožich, Martina Huemer, Ivo Barić, Tawfeq Ben‐Omran, Javier Blasco‐Alonso, María Andrea Delgado, Claudia Carducci, Michela Cassanello, R. Cerone, María L. Couce, Ellen Crushell, Carmen Delgado Pecellín, Elena Dulín, Mercedes Espada, Giulio Ferino, Ralph Fingerhut, I. García Jiménez, Immaculada Gonzalez Gallego, Yolanda González, Gwendolyn Gramer, María Jesús Juan Fita, Eszter Karg, Jeanette Klein, Vassiliki Konstantopoulou, Giancarlo la Marca, Elisa Leão Teles, Vincenzo Leuzzi, Franco Lilliu, Rosa María López, Allan M. Lund, Philip Mayne, Silvia Meavilla, Stuart J. Moat, Jürgen G. Okun, Elisabeta Pasquini, Consuelo Pedrón‐Giner, Gábor Rácz, María Ángeles Ruiz Gómez, Laura Vilarinho, Raquel Yahyaoui, Moja Zerjav Tansek, Rolf Zetterström, Maximilian Zeyda

    出版 2019
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    Artigo
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