5 Einträge gefunden

1. Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

   1. Bauer, Christiane K
   2. Holling, Tess
   3. Horn, Denise
   4. Laço, Mário Nôro
   5. Abdalla, Ebtesam
   6. Omar, Omneya Magdy
   7. Alawi, Malik

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

   1. Danyel, Magdalena
   2. Kortüm, Fanny
   3. Dathe, Katarina
   4. Kutsche, Kerstin
   5. Horn, Denise

   2018 - Forschungsinformationssystem des UKE
3. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

   1. van Rahden, Vanessa A
   2. Fernandez-Vizarra, Erika
   3. Alawi, Malik
   4. Brand, Kristina
   5. Fellmann, Florence
   6. Horn, Denise
   7. Zeviani, Massimo

   2015 - Forschungsinformationssystem des UKE
4. A restricted spectrum of NRAS mutations causes Noonan syndrome.

   1. Cirstea, Ion C
   2. Kutsche, Kerstin
   3. Dvorsky, Radovan
   4. Gremer, Lothar
   5. Carta, Claudio
   6. Horn, Denise
   7. Roberts, Amy E

   2010 - Forschungsinformationssystem des UKE
5. The face of Noonan syndrome: Does phenotype predict genotype.

   1. Allanson, Judith E
   2. Bohring, Axel
   3. Dörr, Helmuth-Guenther
   4. Dufke, Andreas
   5. Gillessen-Kaesbach, Gabrielle
   6. Horn, Denise
   7. König, Rainer

   2010 - Forschungsinformationssystem des UKE