Risultati della ricerca - Enzo Ranieri

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  1. 1
    Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

    Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots di Michael H. Gelb, Zoltán Lukács, Enzo Ranieri, Peter C. J. I. Schielen

    Pubblicazione 2018
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  2. 2
    Prevalence of neural tube defects in South Australia, 1966-91: effectiveness and impact of prenatal diagnosis.

    Prevalence of neural tube defects in South Australia, 1966-91: effectiveness and impact of prenatal diagnosis. di Annabelle Chan, E. F. Robertson, Eric Haan, R. Keane, Enzo Ranieri, A Carney

    Pubblicazione 1993
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  3. 3
    Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.

    Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. di Enzo Ranieri, Richard Ryall, C. Phillip Morris, P. V. Nelson, W.F. Carey, A.C. Pollard, E. F. Robertson

    Pubblicazione 1991
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  4. 4
    Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

    Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm di Giancarlo la Marca, Rachel S. Carling, Stuart J. Moat, Raquel Yahyaoui, Enzo Ranieri, James R. Bonham, Peter C. J. I. Schielen

    Pubblicazione 2023
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  5. 5
    Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience

    Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience di Enzo Ranieri, Barry Lewis, R L Gerace, Richard Ryall, C. Phillip Morris, P. V. Nelson, W.F. Carey, E. F. Robertson

    Pubblicazione 1994
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  6. 6
    Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

    Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study di Giulia Polo, Alessandro P. Burlina, Enzo Ranieri, Francesca Colucci, Laura Rubert, Antonia Pascarella, Giovanni Duro, Albina Tummolo, Andrea Padoan, Mario Plebani, Alberto Burlina

    Pubblicazione 2019
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  7. 7
    Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

    Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives di Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo de Assis Pereira, Joe Trometer, Alexandre Wagner Silva de Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius‐Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani

    Pubblicazione 2020
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  8. 8
    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency di Chuan Tan, Chloé Shard, Enzo Ranieri, Kim Hynes, Duyen Pham, Damien A. Leach, Grant Buchanan, Mark Corbett, Cheryl Shoubridge, Raman Kumar, Evelyn Douglas, Lam Son Nguyen, Jacinta M. McMahon, Lynette G. Sadleir, Nicola Specchio, Carla Marini, Renzo Guerrini, Rikke S. Møller, Christel Depienne, Eric Haan, Paul Q. Thomas, Samuel F. Berkovic, Ingrid E. Scheffer, Jozef Gécz

    Pubblicazione 2015
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  9. 9
    Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

    Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories di Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin‐Hsiu Chien, George J. Dizikes, M. Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu‐Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph J. Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo‐Fresnais, Coleman Turgeon, Frédéric M. Vaz, Liyun Wang, Dietrich Matern

    Pubblicazione 2022
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  10. 10
    Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

    Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation di Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Järvelä, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bokhoven, Hans‐Hilger Ropers, Frédéric Laumonnier, Enzo Ranieri, Charles E. Schwartz, Fatima Abidi, Patrick Tarpey, P. Andrew Futreal, Annabel Whibley, F. Lucy Raymond, Michael R. Stratton, Jean‐Pierre Fryns, Rodney J. Scott, Maarit Peippo, Marjatta Sipponen, M. W. Partington, David Mowat, Michael Field, Anna Hackett, Peter Marynen, Gillian Turner, Jozef Gécz

    Pubblicazione 2008
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