12 Einträge gefunden

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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