12 Einträge gefunden

1. Pediatric Fabry disease.

   1. Ries, Markus
   2. Gupta, Surya
   3. Moore, David F
   4. Sachdev, Vandana
   5. Quirk, Jane M
   6. Murray, Gary J
   7. Rosing, Douglas R

   2005 - Forschungsinformationssystem des UKE
2. Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

   1. Harendza, Sigrid
   2. Hübner, Christian A
   3. Gläser, Christiane
   4. Burdelski, Martin
   5. Thaiss, Friedrich
   6. Hansmann, Ingo
   7. Gal, Andreas

   2005 - Forschungsinformationssystem des UKE
3. AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.

   1. Rosenberger, Georg
   2. Gal, Andreas
   3. Kutsche, Kerstin

   2005 - Forschungsinformationssystem des UKE
4. A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

   1. Stefanova, Margarita
   2. Meinecke, Peter
   3. Gal, Andreas
   4. Bolz, Hanno

   2005 - Forschungsinformationssystem des UKE
5. Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey.

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

   2005 - Forschungsinformationssystem des UKE
6. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

   1. Bolz, Hanno
   2. Ebermann, Inga
   3. Gal, Andreas

   2005 - Forschungsinformationssystem des UKE - frei zugänglich
7. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

   1. Schaefer, E
   2. Mehta, A
   3. Gal, Andreas

   2005 - Forschungsinformationssystem des UKE
8. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

   1. Hübner, Christian A
   2. Orth, Ulrike
   3. Senning, Arne
   4. Steglich, Cordula
   5. Kohlschütter, Alfried
   6. Korinthenberg, Rudolf
   7. Gal, Andreas

   2005 - Forschungsinformationssystem des UKE
9. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.

   1. Hübner, C A
   2. Senning, A
   3. Orth, U
   4. Zerres, K
   5. Urbach, H
   6. Gal, Andreas
   7. Rudnik-Schöneborn, S

   2005 - Forschungsinformationssystem des UKE
10. Mucopolysaccharidosis type II in females: case report and review of literature.

    1. Tuschl, Karin
    2. Gal, Andreas
    3. Paschke, Eduard
    4. Kircher, Susanne
    5. Bodamer, Olaf A

    2005 - Forschungsinformationssystem des UKE
11. Novel mutations and repeated findings of mutations in familial Alzheimer disease.

    1. Finckh, Ulrich
    2. Kuschel, Christian
    3. Anagnostouli, Maria
    4. Patsouris, Efstratios
    5. Pantes, George V
    6. Gatzonis, Stylianos
    7. Kapaki, Elisabeth

    2005 - Forschungsinformationssystem des UKE
12. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    1. Santer, René
    2. Gokçay, G
    3. Demirkol, M
    4. Gal, Andreas
    5. Lukacs, Z

    2005 - Forschungsinformationssystem des UKE