Works matching AU Ranieri, Enzo

Results: 24
    1

    Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

    Published in:
    Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
    By:
    • Stadler, Sonja C.;
    • Polanetz, Roman;
    • Maier, Esther M.;
    • Heidenreich, Sylvia C.;
    • Niederer, Birgit;
    • Mayerhofer, Peter U.;
    • Lagler, Florian;
    • Koch, Hans-Georg;
    • Santer, René;
    • Fletcher, Janice M.;
    • Ranieri, Enzo;
    • Das, Anibh M.;
    • Spiekerkötter, Ute;
    • Schwab, Karl O.;
    • Pötzsch, Simone;
    • Marquardt, Iris;
    • Hennermann, Julia B.;
    • Knerr, Ina;
    • Mercimek-Mahmutoglu, Saadet;
    • Kohlschmidt, Nicolai
    Publication type:
    Article
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    Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 62, doi. 10.3390/ijns8040062
    By:
    • Gelb, Michael H.;
    • Basheeruddin, Khaja;
    • Burlina, Alberto;
    • Chen, Hsiao-Jan;
    • Chien, Yin-Hsiu;
    • Dizikes, George;
    • Dorley, Christine;
    • Giugliani, Roberto;
    • Hietala, Amy;
    • Hong, Xinying;
    • Kao, Shu-Min;
    • Khaledi, Hamid;
    • Klug, Tracy;
    • Kubaski, Francyne;
    • Liao, Hsuan-Chieh;
    • Martin, Monica;
    • Manning, Adrienne;
    • Orsini, Joseph;
    • Peng, Yin;
    • Ranieri, Enzo
    Publication type:
    Article
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    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 18, p. 5250, doi. 10.1093/hmg/ddv245
    By:
    • Chuan Tan;
    • Shard, Chloe;
    • Ranieri, Enzo;
    • Hynes, Kim;
    • Pham, Duyen H.;
    • Leach, Damian;
    • Buchanan, Grant;
    • Corbett, Mark;
    • Shoubridge, Cheryl;
    • Kumar, Raman;
    • Douglas, Evelyn;
    • Nguyen, Lam S.;
    • Mcmahon, Jacinta;
    • Sadleir, Lynette;
    • Specchio, Nicola;
    • Marini, Carla;
    • Guerrini, Renzo;
    • Moller, Rikke S.;
    • Depienne, Christel;
    • Haan, Eric
    Publication type:
    Article
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    The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia.

    Published in:
    BJOG: An International Journal of Obstetrics & Gynaecology, 2000, v. 107, n. 12, p. 1453, doi. 10.1111/j.1471-0528.2000.tb11668.x
    By:
    • Cheffins, Tracy;
    • Chan, Annabelle;
    • Haan, Eric A.;
    • Ranieri, Enzo;
    • Ryall, Richard G.;
    • Keane, Rosemary J.;
    • Byron-Scott, Rosemary;
    • Scott, Heather;
    • Gjerde, Elizabeth M.;
    • Nguyen, Anh-Minh;
    • Ford, Judith H.;
    • Sykes, Stephen
    Publication type:
    Article
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    Screening for Down syndrome in the second trimester of pregnancy.

    Published in:
    Australian & New Zealand Journal of Obstetrics & Gynaecology, 2016, v. 56, n. 1, p. 19, doi. 10.1111/ajo.12411
    By:
    • O'Leary, Peter;
    • Maxwell, Susannah;
    • Sinosich, Michael;
    • DeVoss, Kerry;
    • Fletcher, Janice;
    • Ranieri, Enzo;
    • Metz, Michael P.
    Publication type:
    Article
    17

    Genetic susceptibility to viral exposure may increase the risk of cerebral palsy.

    Published in:
    Australian & New Zealand Journal of Obstetrics & Gynaecology, 2009, v. 49, n. 3, p. 247, doi. 10.1111/j.1479-828X.2009.00999.x
    By:
    • Djukic, Michael;
    • Gibson, Catherine S.;
    • MacLennan, Alastair H.;
    • Goldwater, Paul N.;
    • Haan, Eric A.;
    • McMichael, Gai;
    • Priest, Kevin;
    • Dekker, Gustaaf A.;
    • Hague, William M.;
    • Chan, Annabelle;
    • Rudzki, Zbigniew;
    • Van Essen, Phillipa;
    • Khong, T. Yee;
    • Morton, Mark R.;
    • Ranieri, Enzo;
    • Scott, Heather;
    • Tapp, Heather;
    • Casey, Graeme
    Publication type:
    Article
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    Newborn screening in South Australia: is it universal?

    Published in:
    Medical Journal of Australia, 2003, v. 179, n. 8, p. 412, doi. 10.5694/j.1326-5377.2003.tb05618.x
    By:
    • Metz, Michael P;
    • Ranieri, Enzo;
    • Gerace, Rosemarie L;
    • Priest, Kevin R;
    • Luke, Colin G;
    • Chan, Annabelle
    Publication type:
    Article
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