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Medientyp
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Autor/in
- Gripp, Karen W
- Rosenberger, Georg 3
- Stabley, Deborah L 3
- Baker, Laura 2
- Kolbe, Verena 2
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7 Einträge gefunden
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies
- Gripp, Karen W
- Smithson, Sarah F
- Scurr, Ingrid J
- Baptista, Julia
- Majumdar, Anirban
- Pierre, Germaine
- Williams, Maggie
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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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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
- Bauer, Christiane K
- Schneeberger, Pauline E
- Kortüm, Fanny
- Altmüller, Janine
- Santos-Simarro, Fernando
- Baker, Laura
- Keller-Ramey, Jennifer
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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