Хайлтын үр дүнгүүд - Sharon D. Whatley

  • 9-н 1 - 9 үр дүнгүүдийг харуулж байна
Үр дүнг сайжруулах
  1. 1
    Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

    Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease -н Sharon D. Whatley

    Хэвлэсэн 2004
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  2. 2
    Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

    Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome -н Franco Laccone, Ivonne Jünemann, Sharon D. Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

    Хэвлэсэн 2004
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  3. 3
    Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene

    Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene -н Sharon D. Whatley, Nicola Mason, Jacqueline Woolf, Robert G. Newcombe, George H. Elder, Michael N. Badminton

    Хэвлэсэн 2009
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  4. 4
    Best practice guidelines on first-line laboratory testing for porphyria

    Best practice guidelines on first-line laboratory testing for porphyria -н Jacqueline Woolf, Joanne Marsden, T J Degg, Sharon D. Whatley, Paul Reed, Nadia Brazil, M F Stewart, Michael N. Badminton

    Хэвлэсэн 2016
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  5. 5
    X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia

    X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia -н Christoph Landefeld, Karim Kentouche, Bernd Gruhn, Thomas Stauch, Steve Rößler, Detlef Schuppan, Sharon D. Whatley, James F. Beck, Ulrich Stölzel

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Carta
    Жагсаалт руу хадгалах
    -д хадгалсан:
  6. 6
    Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

    Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type... -н Sharon D. Whatley, Hervé Puy, Rhian Morgan, Anne-Marie Robréau, Andrew Roberts, Y Nordmann, George H. Elder, Jean‐Charles Deybach

    Хэвлэсэн 1999
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  7. 7
    Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

    Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance -н S. Alexander Holme, Sharon D. Whatley, Andrew Roberts, A. Anstey, George H. Elder, R.D. Ead, M F Stewart, P.M. Farr, Helen M. Lewis, Nicholas P. Davies, Marion I. White, R Ackroyd, Michael N. Badminton

    Хэвлэсэн 2008
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  8. 8
    Early onset seizures and Rett-like features associated with mutations in CDKL5

    Early onset seizures and Rett-like features associated with mutations in CDKL5 -н Julie Evans, Hayley Archer, James Colley, Kirstine Ravn, Jytte Bieber Nielsen, Alison Kerr, Elizabeth Williams, John Christodoulou, Jozef Gécz, Philip Jardine, Michael Wright, Daniela T. Pilz, L. Lazarou, D.N. Cooper, Julian R. Sampson, Rachel Butler, Sharon D. Whatley, Angus Clarke

    Хэвлэсэн 2005
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  9. 9
    C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

    C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload -н Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, A. Anstey, Michelle Parker, Anne V. Corrigall, Peter N. Meissner, Richard Hift, Joanne Marsden, Yun Ma, Giorgina Mieli‐Vergani, Jean‐Charles Deybach, Hervé Puy

    Хэвлэсэн 2008
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:

Хайх хэрэгслүүд: