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There are 8110677 results for: content related to: MGAT2-CDG (CDG-IIa) and dysmorphism

  1. MGAT2-CDG (CDG-IIa) and dysmorphism

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2974–2975, Jaak Jaeken

    Version of Record online : 28 SEP 2012, DOI: 10.1002/ajmg.a.35314

  2. Perinatal and early infantile symptoms in congenital disorders of glycosylation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 578–584, Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, Miski Mohamed, Saskia B. Wortmann, Eckhard Korsch, Maciej Adamowicz, Lihadh Al-Gazali, Ron A. Wevers, Adrienne Horvath, Dirk J. Lefeber and Éva Morava

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35702

  3. DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2027–2030, Ignacio Arroyo Carrera, Gert Matthijs, Belen Perez and Celia Pérez Cerdá

    Version of Record online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35472

  4. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 485–487, Christian Thiel, Nina Rind, Diana Popovici, Georg F. Hoffmann, Kristen Hanson, Robert L. Conway, Craig R. Adamski, Elizabeth Butler, Rhonda Scanlon, Marie Lambert, Neophytos Apeshiotis, Charlotte Thiels, Gert Matthijs and Christian Körner

    Version of Record online : 31 JAN 2012, DOI: 10.1002/humu.22019

  5. Congenital disorders of glycosylation

    Annals of the New York Academy of Sciences

    Volume 1214, Issue 1, December 2010, Pages: 190–198, Jaak Jaeken

    Version of Record online : 22 DEC 2010, DOI: 10.1111/j.1749-6632.2010.05840.x

  6. Blood donors' helping behavior is driven by warm glow: more evidence for the blood donor benevolence hypothesis

    Transfusion

    Volume 52, Issue 10, October 2012, Pages: 2189–2200, Eamonn Ferguson, Michael Taylor, David Keatley, Niall Flynn and Claire Lawrence

    Version of Record online : 10 FEB 2012, DOI: 10.1111/j.1537-2995.2011.03557.x

  7. Solution-Processed Ultrathin Chemically Derived Graphene Films as Soft Top Contacts for Solid-State Molecular Electronic Junctions

    Advanced Materials

    Volume 24, Issue 10, March 8, 2012, Pages: 1333–1339, Tao Li, Jonas Rahlf Hauptmann, Zhongming Wei, Søren Petersen, Nicolas Bovet, Tom Vosch, Jesper Nygård, Wenping Hu, Yunqi Liu, Thomas Bjørnholm, Kasper Nørgaard and Bo W. Laursen

    Version of Record online : 6 FEB 2012, DOI: 10.1002/adma.201104550

  8. DPM2-CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

    Annals of Neurology

    Volume 72, Issue 4, October 2012, Pages: 550–558, Rita Barone, Chiara Aiello, Valérie Race, Eva Morava, Francois Foulquier, Moniek Riemersma, Chiara Passarelli, Daniela Concolino, Massimo Carella, Filippo Santorelli, Wendy Vleugels, Eugenio Mercuri, Domenico Garozzo, Luisa Sturiale, Sonia Messina, Jaak Jaeken, Agata Fiumara, Ron A. Wevers, Enrico Bertini, Gert Matthijs and Dirk J. Lefeber

    Version of Record online : 29 OCT 2012, DOI: 10.1002/ana.23632

  9. CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 194–197, Michael Weinstein, Els Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet, Claudia E. Grubenmann, Christian G. Frank, Markus Aebi, Joe T. R. Clarke, Anne Griffiths, Lorne Seargeant and Nicola Poplawski

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.a.30851

  10. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

    PROTEOMICS

    Volume 7, Issue 11, No. 11 June 2007, Pages: 1800–1813, Valegh Faid, Frédéric Chirat, Nathalie Seta, François Foulquier and Willy Morelle

    Version of Record online : 22 MAY 2007, DOI: 10.1002/pmic.200600977

  11. You have free access to this content
    A maternal cafeteria diet during gestation and lactation promotes adiposity and impairs skeletal muscle development and metabolism in rat offspring at weaning

    The Journal of Physiology

    Volume 567, Issue 3, September 2005, Pages: 951–961, Stéphanie A. Bayol, Bigboy H. Simbi and Neil C. Stickland

    Version of Record online : 12 SEP 2005, DOI: 10.1113/jphysiol.2005.088989

  12. Stability and Dynamics of Cyclic Diguanylic Acid in Solution

    ChemPhysChem

    Volume 12, Issue 2, February 7, 2011, Pages: 295–302, Lixian Zhang and Prof. Dr. Markus Meuwly

    Version of Record online : 14 JAN 2011, DOI: 10.1002/cphc.201000692

  13. Diagnosis of congenital disorders of glycosylation type-I using protein chip technology

    PROTEOMICS

    Volume 6, Issue 7, No. 7 April 2006, Pages: 2295–2304, Kevin Mills, Philippa Mills, Marie Jackson, Viki Worthington, Clare Beesley, Anúska Mann, Peter Clayton, Stephanie Grunewald, Geoffrey Keir, Liz Young, James Langridge, Nasi Mian and Bryan Winchester

    Version of Record online : 22 MAR 2006, DOI: 10.1002/pmic.200500682

  14. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1371–1378, Christian Kranz, Alice A. Basinger, Müge Güçsavaş-Çalıkoğlu, Liangwu Sun, Cynthia M. Powell, Frederick W. Henderson, Arthur S. Aylsworth and Hudson H. Freeze

    Version of Record online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31791

  15. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

    American Journal of Medical Genetics

    Volume 101, Issue 1, 1 June 2001, Pages: 46–49, Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg and Pascale Saugier-Veber

    Version of Record online : 27 APR 2001, DOI: 10.1002/ajmg.1298

  16. You have full text access to this OnlineOpen article
    Fluorogenic Probes with Substitutions at the 2 and 7 Positions of Cephalosporin are Highly BlaC-Specific for Rapid Mycobacterium tuberculosis Detection

    Angewandte Chemie

    Volume 126, Issue 35, August 25, 2014, Pages: 9514–9518, Dr. Yunfeng Cheng, Dr. Hexin Xie, Dr. Preeti Sule, Dr. Hany Hassounah, Prof. Edward A. Graviss, Prof. Ying Kong, Prof. Jeffrey D. Cirillo and Prof. Jianghong Rao

    Version of Record online : 2 JUL 2014, DOI: 10.1002/ange.201405243

  17. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2103–2108, Rita Barone, Luisa Sturiale, Vito Sofia, Antonella Ignoto, Agata Fiumara, Giovanni Sorge, Domenico Garozzo and Mario Zappia

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32446

  18. You have full text access to this OnlineOpen article
    Fluorogenic Probes with Substitutions at the 2 and 7 Positions of Cephalosporin are Highly BlaC-Specific for Rapid Mycobacterium tuberculosis Detection

    Angewandte Chemie International Edition

    Volume 53, Issue 35, August 25, 2014, Pages: 9360–9364, Dr. Yunfeng Cheng, Dr. Hexin Xie, Dr. Preeti Sule, Dr. Hany Hassounah, Prof. Edward A. Graviss, Prof. Ying Kong, Prof. Jeffrey D. Cirillo and Prof. Jianghong Rao

    Version of Record online : 2 JUL 2014, DOI: 10.1002/anie.201405243

  19. Integrity and retention of ear-tag radiotransmitters in domestic cattle and feral horses

    Wildlife Society Bulletin

    Volume 36, Issue 1, March 2012, Pages: 189–193, Bryan M. Kluever, Laura Lagos, Stewart W. Breck, Larry D. Howery, Manuel L. Sanmartín, David L. Bergman and Felipe Bárcena

    Version of Record online : 4 JAN 2012, DOI: 10.1002/wsb.95

  20. On Algebraic and Geometric Dimensions for Groups with Torsion

    Journal of the London Mathematical Society

    Volume 64, Issue 2, October 2001, Pages: 489–500, Noel Brady, Ian J. Leary and Brita E. A. Nucinkis

    Version of Record online : 23 DEC 2016, DOI: 10.1112/S002461070100240X