Facetten
Zugriff
Einrichtung
Medientyp
- Text 3
Karte
Erscheinungsjahr
Autor/in
- Gripp, Karen W 3
- Stabley, Deborah L
- Rosenberger, Georg 2
- Sol-Church, Katia 2
- Baker, Laura 1
- alle zeigen
Sprache
- Englisch 3
3 Einträge gefunden
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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
- Gripp, Karen W
- Baker, Laura
- Robbins, Katherine M
- Stabley, Deborah L
- Bellus, Gary A
- Kolbe, Verena
- Nauth, Theresa
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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
- Gripp, Karen W
- Sol-Church, Katia
- Smpokou, Patroula
- Graham, Gail E
- Stevenson, David A
- Hanson, Heather
- Viskochil, David H
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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.
- Gripp, Karen W
- Bifeld, Eugenia
- Stabley, Deborah L
- Hopkins, Elizabeth
- Meien, Stefanie
- Vinette, Kathy
- Sol-Church, Katia