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- Gal, Andreas
- Beck, Michael 8
- Hübner, Christian 5
- Kampmann, Christoph 5
- Kurth, Ingo 5
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60 Einträge gefunden
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The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
- Meyer, Ann
- Kossow, Kai
- Gal, Andreas
- Steglich, Cordula
- Mühlhausen, Chris
- Ullrich, Kurt
- Braulke, Thomas
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Does proximal myotonic myopathy show anticipation?
2008 - Forschungsinformationssystem des UKE -
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[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]
2008 - Forschungsinformationssystem des UKE -
Onset and progression of the Anderson-Fabry disease related cardiomyopathy.
- Kampmann, Christoph
- Linhart, Ales
- Baehner, Frank
- Palecek, Tomas
- Wiethoff, Christiane M
- Miebach, Elke
- Whybra, Catharina
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L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
2007 - Forschungsinformationssystem des UKE -
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Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
2007 - Forschungsinformationssystem des UKE -
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
- Schuster, Andreas
- Janecke, Andreas R
- Wilke, Robert
- Schmid, Eduard
- Thompson, Debra A
- Utermann, Gerd
- Wissinger, Bernd
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Phenotypes of female adrenoleukodystrophy.
2007 - Forschungsinformationssystem des UKE -
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[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
2007 - Forschungsinformationssystem des UKE -
Plexin B3 is genetically associated with verbal performance and white matter volume in human brain.
2007 - Forschungsinformationssystem des UKE -
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IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
- Whybra, Catharina
- Schwarting, Andreas
- Kriegsmann, Jörg
- Gal, Andreas
- Mengel, Eugen
- Kampmann, Christoph
- Baehner, Frank
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Prevalence of uncontrolled hypertension in patients with Fabry disease.
- Kleinert, Julia
- Dehout, François
- Schwarting, Andreas
- Lorenzo, de
- García, Abelardo
- Ricci, Roberta
- Kampmann, Christoph
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Disease manifestations and X inactivation in heterozygous females with Fabry disease.
- Maier, Esther M
- Osterrieder, Stephanie
- Whybra, Catharina
- Ries, Markus
- Gal, Andreas
- Beck, Michael
- Roscher, Adelbert A
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The forkhead transcription factor Foxi1 directly activates the AE4 promoter.
2006 - Forschungsinformationssystem des UKE