9 Einträge gefunden

1. Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations

   1. Bianchi, Paola
   2. Schwarz, Klaus
   3. Högel, Josef
   4. Fermo, Elisa
   5. Vercellati, Cristina
   6. Grosse, Regine
   7. van Wijk, Richard

   2016 - Forschungsinformationssystem des UKE
2. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

   1. Hübers, Annemarie
   2. Just, Walter
   3. Rosenbohm, Angela
   4. Müller, Kathrin
   5. Marroquin, Nicolai
   6. Goebel, Ingrid
   7. Högel, Josef

   2015 - Forschungsinformationssystem des UKE
3. A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

   1. Reiter, Rudolf
   2. Brosch, Sibylle
   3. Goebel, Ingrid
   4. Ludwig, Kerstin U
   5. Pickhard, Anja
   6. Högel, Josef
   7. Schlömer, Guido

   2015 - Forschungsinformationssystem des UKE
4. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

   1. Vogt, Julia
   2. Mussotter, Tanja
   3. Bengesser, Kathrin
   4. Claes, Kathleen
   5. Högel, Josef
   6. Chuzhanova, Nadia
   7. Fu, Chuanhua

   2012 - Forschungsinformationssystem des UKE
5. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

   1. Mußotter, Tanja
   2. Kluwe, Lan
   3. Högel, Josef
   4. Nguyen, Rosa
   5. Cooper, David N
   6. Mautner, Viktor Felix
   7. Kehrer-Sawatzki, Hildegard

   2012 - Forschungsinformationssystem des UKE - frei zugänglich
6. Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.

   1. Lessel, Davor
   2. Gamulin, Marija
   3. Kulis, Tomislav
   4. Toliat, Mohammad Reza
   5. Grgic, Mislav
   6. Friedrich, Katrin
   7. Zunec, Renata

   2012 - Forschungsinformationssystem des UKE
7. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

   1. Roehl, Angelika C
   2. Mussotter, Tanja
   3. Cooper, David N
   4. Kluwe, Lan
   5. Wimmer, Katharina
   6. Högel, Josef
   7. Zetzmann, Marion

   2012 - Forschungsinformationssystem des UKE
8. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

   1. Roehl, Angelika C
   2. Vogt, Julia
   3. Mussotter, Tanja
   4. Zickler, Antje N
   5. Spöti, Helene
   6. Högel, Josef
   7. Chuzhanova, Nadia A

   2010 - Forschungsinformationssystem des UKE
9. Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

   1. Roehl, Angelika C
   2. Cooper, David N
   3. Kluwe, Lan
   4. Helbrich, Andreas
   5. Wimmer, Katharina
   6. Högel, Josef
   7. Mautner, Viktor Felix

   2010 - Forschungsinformationssystem des UKE