7 Einträge gefunden

1. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

   1. Kurth, Ingo
   2. Klopocki, Eva
   3. Stricker, Sigmar
   4. van Oosterwijk, Jolieke
   5. Vanek, Sebastian
   6. Altmann, Jens
   7. Santos, Heliosa G

   2009 - Forschungsinformationssystem des UKE
2. RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.

   1. Chrispell, Jared D
   2. Feathers, Kecia L
   3. Kane, Maureen A
   4. Kim, Chul Y
   5. Brooks, Matthew
   6. Khanna, Ritu
   7. Kurth, Ingo

   2009 - Forschungsinformationssystem des UKE
3. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

   1. Azam, Maleeha
   2. Khan, Muhammad Imran
   3. Gal, Andreas
   4. Hussain, Alamdar
   5. Shah, Syed Tahir Abbas
   6. Khan, Muhammad Shakil
   7. Sadeque, Ahmed

   2009 - Forschungsinformationssystem des UKE - frei zugänglich
4. Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

   1. Frio, Thomas Rio
   2. Panek, Sylwia
   3. Iseli, Christian
   4. Gioia, Di
   5. Alessandro, Silvio
   6. Gal, Andreas
   7. Gal, Andreas

   2009 - Forschungsinformationssystem des UKE - frei zugänglich
5. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

   1. Renner, Agnes B
   2. Fiebig, Britta S
   3. Weber, Bernhard H F
   4. Wissinger, Bernd
   5. Andreasson, Sten
   6. Gal, Andreas
   7. Cropp, Elke

   2009 - Forschungsinformationssystem des UKE
6. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

   1. Whybra, Catharina
   2. Miebach, Elke
   3. Mengel, Eugen
   4. Gal, Andreas
   5. Baron, Karin
   6. Beck, Michael
   7. Kampmann, Christoph

   2009 - Forschungsinformationssystem des UKE
7. Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

   1. Schob, Claudia
   2. Orth, Ulrike
   3. Gal, Andreas
   4. Kindler, Stefan
   5. Chakarova, Christina F
   6. Bhattacharya, Shomi S
   7. Rüther, Klaus

   2009 - Forschungsinformationssystem des UKE