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There are 12225 results for: content related to: Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

  1. Novel PORCN mutations in focal dermal hypoplasia

    Clinical Genetics

    Volume 76, Issue 6, December 2009, Pages: 535–543, G Froyen, K Govaerts, H Van Esch, J Verbeeck, M-L Tuomi, H Heikkilä, S Torniainen, K Devriendt, J-P Fryns, P Marynen, I Järvelä and S Ala-Mello

    Article first published online : 23 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01248.x

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    Stabilization of NAD-dependent formate dehydrogenase from Candida boidinii by site-directed mutagenesis of cysteine residues

    European Journal of Biochemistry

    Volume 267, Issue 5, March 2000, Pages: 1280–1289, Heike Slusarczyk, Stephan Felber, Maria-Regina Kula and Martina Pohl

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1432-1327.2000.01123.x

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    Two W-containing formate dehydrogenases (CO2-reductases) involved in syntrophic propionate oxidation by Syntrophobacter fumaroxidans

    European Journal of Biochemistry

    Volume 270, Issue 11, June 2003, Pages: 2476–2485, Frank A. M. de Bok, Peter-Leon Hagedoorn, Pedro J. Silva, Wilfred R. Hagen, Emile Schiltz, Kathrin Fritsche and Alfons J. M. Stams

    Article first published online : 8 MAY 2003, DOI: 10.1046/j.1432-1033.2003.03619.x

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    Modular organization of FDH: Exploring the basis of hydrolase catalysis

    Protein Science

    Volume 15, Issue 5, May 2006, Pages: 1076–1084, Steven N. Reuland, Alexander P. Vlasov and Sergey A. Krupenko

    Article first published online : 1 JAN 2009, DOI: 10.1110/ps.052062806

  5. Genes for selenium dependent and independent formate dehydrogenase in the gut microbial communities of three lower, wood-feeding termites and a wood-feeding roach

    Environmental Microbiology

    Volume 13, Issue 2, February 2011, Pages: 307–323, Xinning Zhang, Eric G. Matson and Jared R. Leadbetter

    Article first published online : 1 SEP 2010, DOI: 10.1111/j.1462-2920.2010.02330.x

  6. Statistical Approaches for Non-parametric Frontier Models: A Guided Tour

    International Statistical Review

    Léopold Simar and Paul W. Wilson

    Article first published online : 25 AUG 2014, DOI: 10.1111/insr.12056

  7. Enantioselective reduction of prochiral ketones by engineered bifunctional fusion proteins

    Biotechnology and Applied Biochemistry

    Volume 56, Issue 4, August 2010, Pages: 131–140, Kathrin Hölsch and Dirk Weuster-Botz

    Article first published online : 23 DEC 2010, DOI: 10.1042/BA20100143

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    Directed evolution of formate dehydrogenase from Candida boidinii for improved stability during entrapment in polyacrylamide

    FEBS Journal

    Volume 273, Issue 17, September 2006, Pages: 3938–3945, Marion B. Ansorge-Schumacher, Heike Slusarczyk, Julia Schümers and Dennis Hirtz

    Article first published online : 31 JUL 2006, DOI: 10.1111/j.1742-4658.2006.05395.x

  9. Deactivation of Formate Dehydrogenase (FDH) in Solution and at Gas-Liquid Interfaces

    Biotechnology Progress

    Volume 21, Issue 6, 2005, Pages: 1663–1672, Andreas S. Bommarius and Andreas Karau

    Article first published online : 5 SEP 2008, DOI: 10.1021/bp050249q

  10. Improvement of ethanol productivity and energy efficiency by degradation of inhibitors using recombinant Zymomonas mobilis (pHW20a-fdh)

    Biotechnology and Bioengineering

    Volume 110, Issue 9, September 2013, Pages: 2395–2404, Hong-Wei Dong, Li-Qiang Fan, Zichen Luo, Jian-Jiang Zhong, Dewey D. Y. Ryu and Jie Bao

    Article first published online : 5 JUL 2013, DOI: 10.1002/bit.24897

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    Selenium controls transcription of paralogous formate dehydrogenase genes in the termite gut acetogen, Treponema primitia

    Environmental Microbiology

    Volume 12, Issue 8, August 2010, Pages: 2245–2258, Eric G. Matson, Xinning Zhang and Jared R. Leadbetter

    Article first published online : 7 MAR 2010, DOI: 10.1111/j.1462-2920.2010.02188.x

  12. The oxygen-tolerant and NAD+-dependent formate dehydrogenase from Rhodobacter capsulatus is able to catalyze the reduction of CO2 to formate

    FEBS Journal

    Volume 280, Issue 23, December 2013, Pages: 6083–6096, Tobias Hartmann and Silke Leimkühler

    Article first published online : 8 OCT 2013, DOI: 10.1111/febs.12528

  13. Tungsten, the Surprisingly Positively Acting Heavy Metal Element for Prokaryotes

    Annals of the New York Academy of Sciences

    Volume 1125, Issue 1, March 2008, Pages: 215–229, Jan R. Andreesen and Kathrin Makdessi

    Article first published online : 26 MAR 2008, DOI: 10.1196/annals.1419.003

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    Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

    Clinical Genetics

    Volume 73, Issue 5, May 2008, Pages: 430–440, KB Sims, GM Pastores, NJ Weinreb, J Barranger, BE Rosenbloom, S Packman, P Kaplan, H Mankin, R Xavier, J Angell, MA Fitzpatrick and D Rosenthal

    Article first published online : 28 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00978.x

  15. Ionic Liquid-Inspired Cations Covalently Bound to Formate Dehydrogenase Improve its Stability and Activity in Ionic Liquids

    ChemCatChem

    Volume 3, Issue 5, May 9, 2011, Pages: 875–882, Mourad Bekhouche, Prof. Dr. Loïc J. Blum and Dr. Bastien Doumèche

    Article first published online : 18 FEB 2011, DOI: 10.1002/cctc.201000390

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    Structure-guided alteration of coenzyme specificity of formate dehydrogenase by saturation mutagenesis to enable efficient utilization of NADP+

    FEBS Journal

    Volume 275, Issue 15, August 2008, Pages: 3859–3869, Aggeliki Andreadeli, Dimitris Platis, Vladimir Tishkov, Vladimir Popov and Nikolaos E. Labrou

    Article first published online : 4 JUL 2008, DOI: 10.1111/j.1742-4658.2008.06533.x

  17. PORCN gene mutations and the protean nature of focal dermal hypoplasia

    British Journal of Dermatology

    Volume 160, Issue 5, May 2009, Pages: 1103–1109, S.E. Clements, J.E. Mellerio, S.T. Holden, J. McCauley and J.A. McGrath

    Article first published online : 9 MAR 2009, DOI: 10.1111/j.1365-2133.2009.09048.x

  18. Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 73, Issue 4, April 2008, Pages: 320–330, M Shoukier, U Teske, A Weise, W Engel and L Argyriou

    Article first published online : 26 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00968.x

  19. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

    Clinical Genetics

    Volume 73, Issue 6, June 2008, Pages: 535–544, Y Miyoshi, M Akagi, AK Agarwal, N Namba, K Kato-Nishimura, I Mohri, M Yamagata, S Nakajima, S Mushiake, M Shima, RJ Auchus, M Taniike, A Garg and K Ozono

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.2008.00992.x

  20. History of genetics through philately – deafness

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 417–420, SM Nikkel and AE Chudley

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600603.x