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There are 2337 results for: content related to: Promoting Children's Health Through Understanding of Genetics and Genomics

  1. Current approaches to molecular diagnosis

    Standard Article

    Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

    O. Thomas Mueller

    Published Online : 15 JAN 2005, DOI: 10.1002/047001153X.g106211

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    Genes and mutations causing retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 132–141, S P Daiger, L S Sullivan and S J Bowne

    Article first published online : 19 JUN 2013, DOI: 10.1111/cge.12203

  3. Chromosome 8

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    Encyclopedia Of Molecular Medicine

    Marie-Josèphe Pébusque

    Published Online : 15 JAN 2002, DOI: 10.1002/0471203076.emm1161

  4. Amelogenesis imperfecta: a classification and catalogue for the 21st century

    Oral Diseases

    Volume 9, Issue 1, January 2003, Pages: 19–23, MJ Aldred, R Savarirayan and PJM Crawford

    Article first published online : 31 JAN 2003, DOI: 10.1034/j.1601-0825.2003.00843.x

  5. The new bone biology: Pathologic, molecular, and clinical correlates

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2646–2706, M. Michael Cohen Jr.

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31368

  6. Developmental and genetic perspectives on Pierre Robin sequence

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

    Volume 163, Issue 4, November 2013, Pages: 295–305, Tiong Yang Tan, Nicky Kilpatrick and Peter G. Farlie

    Article first published online : 11 OCT 2013, DOI: 10.1002/ajmg.c.31374

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    Glycine receptor mouse mutants: model systems for human hyperekplexia

    British Journal of Pharmacology

    Volume 170, Issue 5, November 2013, Pages: 933–952, Natascha Schaefer, Georg Langlhofer, Christoph J Kluck and Carmen Villmann

    Article first published online : 15 OCT 2013, DOI: 10.1111/bph.12335

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    EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

    European Journal of Neurology

    Volume 18, Issue 2, February 2011, Pages: 207–217, J.-M. Burgunder, L. Schöls, J. Baets, P. Andersen, T. Gasser, Z. Szolnoki, B. Fontaine, C. Van Broeckhoven, S. Di Donato, P. De Jonghe, T. Lynch, C. Mariotti, A. Spinazzola, S. J. Tabrizi, C. Tallaksen, M. Zeviani, H. F. Harbo and J. Finsterer

    Article first published online : 25 MAY 2010, DOI: 10.1111/j.1468-1331.2010.03069.x

  9. Genetic diseases in the Tunisian population

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 238–267, Lilia Romdhane, Sonia Abdelhak, for the Research Unit on Molecular Investigation of Genetic Orphan Diseases and and Collaborators

    Article first published online : 28 DEC 2010, DOI: 10.1002/ajmg.a.33771

  10. The role of genes in causing dystonia

    European Journal of Neurology

    Volume 17, Issue s1, July 2010, Pages: 65–70, A. Schmidt and C. Klein

    Article first published online : 8 JUN 2010, DOI: 10.1111/j.1468-1331.2010.03055.x

  11. Pseudoxanthoma elasticum arises from mutations in an ABC transporter family member, ABCC6

    Clinical Genetics

    Volume 58, Issue 3, September 2000, Pages: 164–166, R Singaraja

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580302.2.x

  12. Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs

    American Journal of Medical Genetics

    Volume 109, Issue 4, 15 May 2002, Pages: 323–327, André Mégarbané, Joseph H. Hersh, Eliane Chouery and Michel Fabre

    Article first published online : 1 APR 2002, DOI: 10.1002/ajmg.10370

  13. Genetics of dystonia: What's known? What's new? What's next?

    Movement Disorders

    Volume 28, Issue 7, 15 June 2013, Pages: 899–905, Katja Lohmann and Christine Klein

    Article first published online : 25 JUL 2013, DOI: 10.1002/mds.25536

  14. Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype

    Orthodontics & Craniofacial Research

    Volume 9, Issue 3, August 2006, Pages: 129–136, A Gerits, P Nieminen, S De Muynck and C Carels

    Article first published online : 18 AUG 2006, DOI: 10.1111/j.1601-6343.2006.00367.x

  15. PERMANENT GENETIC RESOURCES: Isolation and characterization of 10 tetranucleotide microsatellite loci in an enigmatic East African bird, the spot-throat (Modulatrix stictigula)

    Molecular Ecology Resources

    Volume 8, Issue 2, March 2008, Pages: 342–344, ANNA B. SELLAS, KEVIN A. FELDHEIM and RAURI C. K. BOWIE

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1471-8286.2007.01949.x

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    Epidermolysis bullosa in animals: a review

    Veterinary Dermatology

    Volume 26, Issue 1, February 2015, Pages: 3–e2, Gildenor X. Medeiros and Franklin Riet-Correa

    Article first published online : 30 OCT 2014, DOI: 10.1111/vde.12176

  17. G-protein-mediated Signal Transduction and Human Disorders

    Standard Article


    Allen M Spiegel

    Published Online : 27 JAN 2006, DOI: 10.1038/npg.els.0005505

  18. Ichthyoses – Part 2: Congenital ichthyoses

    JDDG: Journal der Deutschen Dermatologischen Gesellschaft

    Volume 7, Issue 7, July 2009, Pages: 577–587, Markus Krug, Vinzenz Oji, Heiko Traupe and Mark Berneburg

    Article first published online : 15 JAN 2009, DOI: 10.1111/j.1610-0387.2008.06970.x

  19. Cell Adhesion Molecules and Human Disorders

    Standard Article


    Ulrich Müller

    Published Online : 23 SEP 2005, DOI: 10.1038/npg.els.0005169

  20. Parkinson's disease: 10 years of progress, 1997–2007

    Movement Disorders

    Volume 25, Issue S1, 2010, Pages: S2–S14, Stanley Fahn

    Article first published online : 25 FEB 2010, DOI: 10.1002/mds.22796