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There are 121819 results for: content related to: PORCN gene mutations and the protean nature of focal dermal hypoplasia

  1. 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

    Version of Record online : 26 MAR 2008, DOI: 10.1196/annals.1419.003

  2. 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

    Version of Record online : 23 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01248.x

  3. Focal dermal hypoplasia: updates

    Oral Diseases

    Volume 20, Issue 1, January 2014, Pages: 17–24, L Wang, X Jin, X Zhao, D Liu, T Hu, W Li, L Jiang, H Dan, X Zeng and Q Chen

    Version of Record online : 6 MAR 2013, DOI: 10.1111/odi.12083

  4. Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 479–486, Laura Mary, Sophie Scheidecker, Monique Kohler, Maria-Paola Lombardi, Anne-Lise Delezoide, Elisabeth Auberger, Stéphane Triau, Estelle Colin, Marion Gerard, Karl-Heinz Grzeschik, Hélène Dollfus and Maria Cristina Antal

    Version of Record online : 13 SEP 2016, DOI: 10.1002/ajmg.a.37974

    Corrected by:

    CORRIGENDUM: Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

    Vol. 173, Issue 6, 1722–1724, Version of Record online: 19 APR 2017

  5. Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

    Journal of the European Academy of Dermatology and Venereology

    Volume 25, Issue 5, May 2011, Pages: 592–595, M Vreeburg, M van Geel, LGT van den Heuij, PM Steijlen and MAM van Steensel

    Version of Record online : 6 JUL 2010, DOI: 10.1111/j.1468-3083.2010.03782.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

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1432-1327.2000.01123.x

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    Neonatal hydrocephalus is a result of a block in folate handling and metabolism involving 10-formyltetrahydrofolate dehydrogenase

    Journal of Neurochemistry

    Volume 138, Issue 4, August 2016, Pages: 610–623, Naila Naz, Alicia Requena Jimenez, Anna Sanjuan-Vilaplana, Megan Gurney and Jaleel Miyan

    Version of Record online : 25 JUL 2016, DOI: 10.1111/jnc.13686

  8. Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome

    Pediatric Dermatology

    Volume 30, Issue 4, July/August 2013, Pages: 476–479, Said Alkindi, Malcolm Battin, Salim Aftimos and Diana Purvis

    Version of Record online : 7 NOV 2012, DOI: 10.1111/pde.12031

  9. 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

    Version of Record online : 1 SEP 2010, DOI: 10.1111/j.1462-2920.2010.02330.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

    Version of Record online : 8 MAY 2003, DOI: 10.1046/j.1432-1033.2003.03619.x

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    Oral phenotype and variation in focal dermal hypoplasia

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 172, Issue 1, March 2016, Pages: 52–58, John Timothy Wright, Chaitanya P. Puranik and Frank Farrington

    Version of Record online : 3 FEB 2016, DOI: 10.1002/ajmg.c.31478

  12. Focal dermal hypoplasia without focal dermal hypoplasia

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 778–781, Silvina N. Contreras-Capetillo, Maria Paola Lombardi, Doris Pinto-Escalante and Raoul C. Hennekam

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36341

  13. An Artificial Co-enzyme Based on the Viologen Skeleton for Highly Efficient CO2 Reduction to Formic Acid with Formate Dehydrogenase


    Volume 9, Issue 5, March 8, 2017, Pages: 833–838, Shusaku Ikeyama and Prof. Yutaka Amao

    Version of Record online : 12 JAN 2017, DOI: 10.1002/cctc.201601188

  14. Directed Evolution of a Formate Dehydrogenase for Increased Tolerance to Ionic Liquids Reveals a New Site for Increasing the Stability


    Volume 15, Issue 18, December 15, 2014, Pages: 2710–2718, Julie L. L. Carter, Dr. Mourad Bekhouche, Dr. Alexandre Noiriel, Prof. Dr. Loïc J. Blum and Dr. Bastien Doumèche

    Version of Record online : 24 OCT 2014, DOI: 10.1002/cbic.201402501

  15. Engineering bi-functional enzyme complex of formate dehydrogenase and leucine dehydrogenase by peptide linker mediated fusion for accelerating cofactor regeneration

    Engineering in Life Sciences

    Volume 17, Issue 9, September 2017, Pages: 989–996, Yonghui Zhang, Yali Wang, Shizhen Wang and Baishan Fang

    Version of Record online : 17 MAY 2017, DOI: 10.1002/elsc.201600232

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    The roles of hydrogenases 3 and 4, and the F0F1-ATPase, in H2 production by Escherichia coli at alkaline and acidic pH

    FEBS Letters

    Volume 516, Issue 1-3, April 10, 2002, Pages: 172–178, Karine Bagramyan, Nelli Mnatsakanyan, Anna Poladian, Anait Vassilian and Armen Trchounian

    Version of Record online : 14 MAR 2002, DOI: 10.1016/S0014-5793(02)02555-3

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

    International Statistical Review

    Volume 83, Issue 1, April 2015, Pages: 77–110, Léopold Simar and Paul W. Wilson

    Version of Record online : 25 AUG 2014, DOI: 10.1111/insr.12056

  18. 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

    Version of Record online : 23 DEC 2010, DOI: 10.1042/BA20100143

  19. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1750–1754, Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Gustavo Savino, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga and Karl-Heinz Grzeschik

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35964

  20. 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

    Version of Record online : 5 JUL 2013, DOI: 10.1002/bit.24897