60 Einträge gefunden

1. Ocular signs correlate well with disease severity and genotype in Fabry disease

   1. Pitz, Susanne
   2. Kalkum, Gisela
   3. Arash, Laila
   4. Karabul, Nesrin
   5. Sodi, Andrea
   6. Larroque, Sylvain
   7. Beck, Michael

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
2. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

   1. Thoenes, Michaela
   2. Zimmermann, Ulrike
   3. Ebermann, Inga
   4. Ptok, Martin
   5. Lewis, Morag A
   6. Thiele, Holger
   7. Morlot, Susanne

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
3. EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells

   1. Struve, Nina
   2. Riedel, Matthias
   3. Schulte, Alexander
   4. Rieckmann, Thorsten
   5. Grob, Tobias J
   6. Gal, Andreas
   7. Rothkamm, Kai

   2015 - Forschungsinformationssystem des UKE
4. Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrest

   1. Kriegs, Malte
   2. Gurtner, Kristin
   3. Can, Yildiz
   4. Brammer, Ingo
   5. Rieckmann, Thorsten
   6. Oertel, Reinhard
   7. Wysocki, Marek

   2015 - Forschungsinformationssystem des UKE
5. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

   1. Cobos, Paulina Nieves
   2. Steglich, Cordula
   3. Santer, René
   4. Lukacs, Zoltan
   5. Gal, Andreas

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
6. Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiation

   1. Laban, Simon
   2. Steinmeister, Leonhard
   3. Gleißner, Lisa
   4. Grob, Tobias J
   5. Grénman, Reidar
   6. Petersen, Cordula
   7. Gal, Andreas

   2013 - Forschungsinformationssystem des UKE
7. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

   1. Piña-Aguilar, Raul E
   2. Zaragoza-Arévalo, Gerardo R
   3. Rau, Isabella
   4. Gal, Andreas
   5. Alcántara-Ortigoza, Miguel A
   6. López-Martínez, Mónica S
   7. Santillán-Hernández, Yuritzi

   2013 - Forschungsinformationssystem des UKE
8. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

   1. Gal, Andreas
   2. Rau, Isabella
   3. Leila, El Matri
   4. Kreienkamp, Hans-Jürgen
   5. Fehr, Susanne
   6. Baklouti, Karim
   7. Chouchane, Ibtissem

   2011 - Forschungsinformationssystem des UKE
9. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

   1. Muschol, Nicole
   2. Pohl, Sandra
   3. Meyer, Ann
   4. Gal, Andreas
   5. Ullrich, Kurt
   6. Braulke, Thomas

   2011 - Forschungsinformationssystem des UKE
10. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

    1. Gal, Andreas
    2. Hughes, Derralynn A
    3. Winchester, Bryan

    2011 - Forschungsinformationssystem des UKE
11. Ccdc66 null mutation causes retinal degeneration and dysfunction.

    1. Gerding, Wanda M
    2. Schreiber, Sabrina
    3. Schulte-Middelmann, Tobias
    4. de Castro Marques, Andreia
    5. Atorf, Jenny
    6. Akkad, Denis A
    7. Dekomien, Gabriele

    2011 - Forschungsinformationssystem des UKE
12. Incontinetia pigmenti-related myopathy or unsolved "double trouble"?

    1. Huttner, H B
    2. Richter, G
    3. Jünemann, A
    4. Kress, W
    5. Weis, J
    6. Schröder, J M
    7. Gal, Andreas

    2010 - Forschungsinformationssystem des UKE
13. Clinical, radiological and genetic aspects of leukodystrophies.

    1. László, A
    2. Elpeleg, On
    3. Horváth, K
    4. Jakobs, C
    5. Kóbor, J
    6. Gal, Andreas
    7. Barsi, P

    2010 - Forschungsinformationssystem des UKE
14. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

    1. Guettsches, Anne-Katrin
    2. Kuechler, Alma
    3. Gal, Andreas
    4. Schmitz, Werner
    5. Tegenthoff, Martin
    6. Vorgerd, Matthias

    2010 - Forschungsinformationssystem des UKE
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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