7 Einträge gefunden

1. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

   1. Abdalla, Ebtesam
   2. Alawi, Malik
   3. Meinecke, Peter
   4. Kutsche, Kerstin
   5. Harms, Frederike L

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia

   1. Xu, Le
   2. Harms, Frederike L
   3. Chirasani, Venkat R
   4. Pasek, Daniel A
   5. Kortüm, Fanny
   6. Meinecke, Peter
   7. Dokholyan, Nikolay V

   2020 - Forschungsinformationssystem des UKE
3. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

   1. Kloth, Katja
   2. Bierhals, Tatjana
   3. Johannsen, Jessika
   4. Harms, Frederike L
   5. Juusola, Jane
   6. Johnson, Mark C
   7. Grange, Dorothy K

   2019 - Forschungsinformationssystem des UKE
4. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11

   1. Harms, Frederike L
   2. Nampoothiri, Sheela
   3. Anazi, Shams
   4. Yesodharan, Dhanya
   5. Alawi, Malik
   6. Kutsche, Kerstin
   7. Alkuraya, Fowzan S

   2018 - Forschungsinformationssystem des UKE
5. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

   1. Harms, Frederike L
   2. Alawi, Malik
   3. Amor, David J
   4. Tan, Tiong Y
   5. Cuturilo, Goran
   6. Lissewski, Christina
   7. Brinkmann, Julia

   2018 - Forschungsinformationssystem des UKE
6. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

   1. Harms, Frederike L
   2. Kloth, Katja
   3. Bley, Annette
   4. Denecke, Jonas
   5. Santer, René
   6. Lessel, Davor
   7. Hempel, Maja

   2018 - Forschungsinformationssystem des UKE
7. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

   1. Shukla, Anju
   2. Hebbar, Malavika
   3. Harms, Frederike L
   4. Kadavigere, Rajagopal
   5. Girisha, Katta M
   6. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE