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There are 1010213 results for: content related to: Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis

  1. You have full text access to this OnlineOpen article
    Hypoxia decreases the expression of the two enzymes responsible for producing linear and cyclic tetrapyrroles in the heme biosynthetic pathway

    FEBS Journal

    Volume 275, Issue 23, December 2008, Pages: 5947–5959, Patrick D. Vargas, Kazumichi Furuyama, Shigeru Sassa and Shigeki Shibahara

    Article first published online : 30 OCT 2008, DOI: 10.1111/j.1742-4658.2008.06723.x

  2. A Kinetic Analysis of the Reaction Catalysed by (Hydroxymethyl)bilane Synthase

    Helvetica Chimica Acta

    Volume 77, Issue 7, 2 November 1994, Pages: 1791–1809, Annette C. Niemann, Alfons Hädener and Peter K. Matzinger

    Article first published online : 25 OCT 2004, DOI: 10.1002/hlca.19940770711

  3. You have full text access to this OnlineOpen article
    Purification, characterization, crystallisation and X-ray analysis of selenomethionine-labelled hydroxymethylbilane synthase from Escherichia coli

    European Journal of Biochemistry

    Volume 211, Issue 3, February 1993, Pages: 615–624, Alfons HÄDENER, Peter K. MATZINGER, Vladimir N. MALASHKEVICH, Gordon V. LOUIE, Stephen P. WOOD, Philip OLIVER, Peter R. ALEFOUNDER, Andrew R. PITT, Chris ABELL and Alan R. BATTERSBY

    Article first published online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1993.tb17589.x

  4. Synthesis of polycarbosilanes having a five-membered cyclic carbonate structure and their application to prepare gel polymer electrolytes for lithium ion batteries

    Journal of Polymer Science Part A: Polymer Chemistry

    Volume 50, Issue 24, 15 December 2012, Pages: 5161–5169, Kozo Matsumoto, Takeshi Endo, Kouhei Katsuda, Hojin Lee and Kinji Yamada

    Article first published online : 21 SEP 2012, DOI: 10.1002/pola.26359

  5. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 396–398, A Yrjönen, E Pischik, S Mehtälä and R Kauppinen

    Article first published online : 21 JUL 2008, DOI: 10.1111/j.1399-0004.2008.01061.x

  6. Determination of the structure of selenomethionine-labelled hydroxymethylbilane synthase in its active form by multi-wavelength anomalous dispersion

    Acta Crystallographica Section D

    Volume 55, Issue 3, March 1999, Pages: 631–643, A. Hädener, P. K. Matzinger, A. R. Battersby, S. McSweeney, A. W. Thompson, A. P. Hammersley, S. J. Harrop, A. Cassetta, A. Deacon, W. N. Hunter, Y. P. Nieh, J. Raftery, N. Hunter and J. R. Helliwell

    DOI: 10.1107/S0907444998014711

  7. Parameter Estimation and Actuator Characteristics of Hybrid Magnetic Bearings for Axial Flow Blood Pump Applications

    Artificial Organs

    Volume 33, Issue 7, July 2009, Pages: 509–531, Tau Meng Lim, Shanbao Cheng and Leok Poh Chua

    Article first published online : 22 JUN 2009, DOI: 10.1111/j.1525-1594.2009.00732.x

  8. Acute intermittent porphyria: vector optimization for gene therapy

    The Journal of Gene Medicine

    Volume 9, Issue 9, September 2007, Pages: 806–811, Makiko Yasuda, Maciej E. Domaradzki, Donna Armentano, Seng H. Cheng, David F. Bishop and Robert J. Desnick

    Article first published online : 25 JUL 2007, DOI: 10.1002/jgm.1074

  9. You have full text access to this OnlineOpen article
    Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

    Annals of Human Genetics

    Volume 68, Issue 5, September 2004, Pages: 509–514, E. Guillén-Navarro, P. Carbonell, G. Glover, M. Sánchez-Solís and A. Fernández-Barreiro

    Article first published online : 20 AUG 2004, DOI: 10.1046/j.1529-8817.2003.00114.x

  10. The effect of singlet oxygen quenchers with additional u.v. absorbing functionality on the photofading of acid dyes

    Journal of the Society of Dyers and Colourists

    Volume 103, Issue 5-6, May 1987, Pages: 205–208, Hironori Oda and Teijiro Kitao

    Article first published online : 22 OCT 2008, DOI: 10.1111/j.1478-4408.1987.tb01112.x

  11. You have full text access to this OnlineOpen article
    Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties

    FEBS Journal

    Volume 276, Issue 7, April 2009, Pages: 2106–2115, Dana Ulbrichova, Matous Hrdinka, Vladimir Saudek and Pavel Martasek

    Article first published online : 6 MAR 2009, DOI: 10.1111/j.1742-4658.2009.06946.x

  12. The Secondary Market in Home Equity Conversion Mortgages

    Reverse Mortgages and Linked Securities: The Complete Guide to Risk, Pricing, and Regulation

    Charles A. Stone, Anne Zissu, Pages: 127–147, 2011

    Published Online : 29 NOV 2011, DOI: 10.1002/9781118266458.ch11

  13. You have free access to this content
    Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria

    Human Mutation

    Volume 26, Issue 5, November 2005, Page: 496, Elena Pischik, Susanna Mehtälä and Raili Kauppinen

    Article first published online : 6 OCT 2005, DOI: 10.1002/humu.9381

  14. You have free access to this content
    Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations

    Human Mutation

    Volume 15, Issue 5, May 2000, Page: 480, Franco Martinez di Montemuros, Elena Di Pierro, Silvia Fargion, Gianfranco Biolcati, Daniela Griso, Annelisa Macrì, Gemino Fiorelli and Maria Domenica Cappellini

    Article first published online : 26 APR 2000, DOI: 10.1002/(SICI)1098-1004(200005)15:5<480::AID-HUMU12>3.0.CO;2-J

  15. Miniaturization of a Magnetically Levitated Axial Flow Blood Pump

    Artificial Organs

    Volume 34, Issue 10, October 2010, Pages: 807–815, Shanbao Cheng, Mark W. Olles, Don B. Olsen, Lyle D. Joyce and Steven W. Day

    Article first published online : 14 OCT 2010, DOI: 10.1111/j.1525-1594.2010.01077.x

  16. Effect of uv absorbers containing singlet oxygen quenching groups on the photochemical stability of crystal violet lactone and related colours

    Journal of Chemical Technology and Biotechnology

    Volume 41, Issue 4, 1988, Pages: 287–295, Hironori Oda

    Article first published online : 24 APR 2007, DOI: 10.1002/jctb.280410405

  17. Gene expression analysis in prostate cancer: The importance of the endogenous control

    The Prostate

    Volume 73, Issue 4, March 2013, Pages: 382–390, Alice Vajda, Laure Marignol, Ciara Barrett, Stephen F. Madden, Thomas H. Lynch, Donal Hollywood and Antoinette S. Perry

    Article first published online : 27 AUG 2012, DOI: 10.1002/pros.22578

  18. You have full text access to this OnlineOpen article
    Hypoxia and HIF-1 increase S100A8 and S100A9 expression in prostate cancer

    International Journal of Cancer

    Volume 131, Issue 12, 15 December 2012, Pages: 2785–2794, Sina Grebhardt, Christian Veltkamp, Philipp Ströbel and Doris Mayer

    Article first published online : 8 MAY 2012, DOI: 10.1002/ijc.27591

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    Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria

    Human Mutation

    Volume 19, Issue 3, March 2002, Page: 310, Anita Gregor, Xiaoye Schneider-Yin, Urszula Szlendak, Albert Wettstein, Agnieszka Lipniacka, Urszula B. Rüfenacht and Elisabeth I. Minder

    Article first published online : 13 FEB 2002, DOI: 10.1002/humu.9020

  20. Rapid screening method to study the reactivity of UV filter substances towards skin proteins by high-performance thin-layer chromatography

    International Journal of Cosmetic Science

    Volume 35, Issue 6, December 2013, Pages: 588–599, C. Stiefel and W. Schwack

    Article first published online : 4 SEP 2013, DOI: 10.1111/ics.12082