6 Einträge gefunden

1. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

   1. Kakar, Naseebullah
   2. Ahmad, Jamil
   3. Morris-Rosendahl, Deborah J
   4. Altmüller, Janine
   5. Friedrich, Katrin
   6. Barbi, Gotthold
   7. Nürnberg, Peter

   2015 - Forschungsinformationssystem des UKE
2. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

   1. Aulitzky, Anna
   2. Friedrich, Katrin
   3. Gläser, Dieter
   4. Gastl, Regina
   5. Kubisch, Christian
   6. Ludolph, Albert C
   7. Volk, Alexander

   2014 - Forschungsinformationssystem des UKE
3. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

   1. Borck, Guntram
   2. Kakar, Naseebullah
   3. Hoch, Jochen
   4. Friedrich, Katrin
   5. Freudenberg, Jan
   6. Nürnberg, Gudrun
   7. Yilmaz, Rüstem

   2012 - Forschungsinformationssystem des UKE
4. 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
5. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

   1. Hisama, Fuki M
   2. Lessel, Davor
   3. Leistritz, Dru
   4. Friedrich, Katrin
   5. McBride, Kim L
   6. Pastore, Matthew T
   7. Gottesman, Gary S

   2011 - Forschungsinformationssystem des UKE
6. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

   1. Friedrich, Katrin
   2. Lee, Lin
   3. Leistritz, Dru F
   4. Nürnberg, Gudrun
   5. Saha, Bidisha
   6. Hisama, Fuki M
   7. Eyman, Daniel K

   2010 - Forschungsinformationssystem des UKE