3 Einträge gefunden

1. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

   1. Gripp, Karen W
   2. Baker, Laura
   3. Robbins, Katherine M
   4. Stabley, Deborah L
   5. Bellus, Gary A
   6. Kolbe, Verena
   7. Nauth, Theresa

   2020 - Forschungsinformationssystem des UKE
2. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

   1. Gripp, Karen W
   2. Sol-Church, Katia
   3. Smpokou, Patroula
   4. Graham, Gail E
   5. Stevenson, David A
   6. Hanson, Heather
   7. Viskochil, David H

   2015 - Forschungsinformationssystem des UKE
3. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

   1. Gripp, Karen W
   2. Bifeld, Eugenia
   3. Stabley, Deborah L
   4. Hopkins, Elizabeth
   5. Meien, Stefanie
   6. Vinette, Kathy
   7. Sol-Church, Katia

   2012 - Forschungsinformationssystem des UKE