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- Text 49
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Autor/in
- Gal, Andreas
- Beck, Michael 7
- Hübner, Christian 5
- Kampmann, Christoph 5
- Kurth, Ingo 5
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49 Einträge gefunden
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Incontinetia pigmenti-related myopathy or unsolved "double trouble"?
2010 - Forschungsinformationssystem des UKE -
Clinical, radiological and genetic aspects of leukodystrophies.
2010 - Forschungsinformationssystem des UKE -
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RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.
- Chrispell, Jared D
- Feathers, Kecia L
- Kane, Maureen A
- Kim, Chul Y
- Brooks, Matthew
- Khanna, Ritu
- Kurth, Ingo
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A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
- Azam, Maleeha
- Khan, Muhammad Imran
- Gal, Andreas
- Hussain, Alamdar
- Shah, Syed Tahir Abbas
- Khan, Muhammad Shakil
- Sadeque, Ahmed
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Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
- Kurth, Ingo
- Klopocki, Eva
- Stricker, Sigmar
- van Oosterwijk, Jolieke
- Vanek, Sebastian
- Altmann, Jens
- Santos, Heliosa G
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Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
- Frio, Thomas Rio
- Panek, Sylwia
- Iseli, Christian
- Gioia, Di
- Alessandro, Silvio
- Gal, Andreas
- Gal, Andreas
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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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[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]
2008 - Forschungsinformationssystem des UKE -
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Does proximal myotonic myopathy show anticipation?
2008 - Forschungsinformationssystem des UKE -
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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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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L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
2007 - Forschungsinformationssystem des UKE -
[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
2007 - Forschungsinformationssystem des UKE -
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Phenotypes of female adrenoleukodystrophy.
2007 - Forschungsinformationssystem des UKE