12 Einträge gefunden

1. Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

   1. Warshawsky, Ilka
   2. Chernova, Olga B
   3. Hübner, Christian
   4. Stindl, Reinhard
   5. Henneke, Marco
   6. Gal, Andreas
   7. Natowicz, Marvin R

   2006 - Forschungsinformationssystem des UKE
2. A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.

   1. Neubauer, B A
   2. Stefanova, I
   3. Hübner, Christian
   4. Neumaier-Probst, E
   5. Bohl, J
   6. Oppermann, H C
   7. Stö, H

   2006 - Forschungsinformationssystem des UKE
3. The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

   1. Kurth, Ingo
   2. Hentschke, Moritz
   3. Hentschke, Suna
   4. Borgmeyer, Uwe
   5. Gal, Andreas
   6. Hübner, Christian

   2006 - Forschungsinformationssystem des UKE
4. First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

   1. Tomi, Diana
   2. Schultze-Mosgau, Askan
   3. Eckhold, Juliane
   4. Schopper, Beate
   5. Al-Hasani, Safaa
   6. Steglich, Cordula
   7. Gal, Andreas

   2006 - Forschungsinformationssystem des UKE
5. [The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]

   1. Rüther, K
   2. Gal, Andreas
   3. Kohlschütter, Alfried

   2006 - Forschungsinformationssystem des UKE
6. Prevalence of uncontrolled hypertension in patients with Fabry disease.

   1. Kleinert, Julia
   2. Dehout, François
   3. Schwarting, Andreas
   4. Lorenzo, de
   5. García, Abelardo
   6. Ricci, Roberta
   7. Kampmann, Christoph

   2006 - Forschungsinformationssystem des UKE
7. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.

   1. Ries, Markus
   2. Schaefer, Ellen
   3. Lührs, Till
   4. Mani, Latha
   5. Kuhn, Jana
   6. Vanier, Marie T
   7. Krummenauer, Frank

   2006 - Forschungsinformationssystem des UKE
8. IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

   1. Whybra, Catharina
   2. Schwarting, Andreas
   3. Kriegsmann, Jörg
   4. Gal, Andreas
   5. Mengel, Eugen
   6. Kampmann, Christoph
   7. Baehner, Frank

   2006 - Forschungsinformationssystem des UKE
9. Disease manifestations and X inactivation in heterozygous females with Fabry disease.

   1. Maier, Esther M
   2. Osterrieder, Stephanie
   3. Whybra, Catharina
   4. Ries, Markus
   5. Gal, Andreas
   6. Beck, Michael
   7. Roscher, Adelbert A

   2006 - Forschungsinformationssystem des UKE
10. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

    1. Rau, Isabella
    2. Morleo, Manuela
    3. Rosenberger, Georg
    4. Iaconis, Daniela
    5. Orth, Ulrike
    6. Meinecke, Peter
    7. Lerer, Israela

    2006 - Forschungsinformationssystem des UKE
11. Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

    1. Hartwig, Christine
    2. Gal, Andreas
    3. Santer, René
    4. Ullrich, Kurt
    5. Finckh, Ulrich
    6. Kreienkamp, Hans-Jürgen

    2006 - Forschungsinformationssystem des UKE
12. Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.

    1. Hentschke, Moritz
    2. Wiemann, Martin
    3. Hentschke, Suna
    4. Kurth, Ingo
    5. Hermans-Borgmeyer, Irm
    6. Seidenbecher, Thomas
    7. Jentsch, Thomas J

    2006 - Forschungsinformationssystem des UKE