3 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. 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
3. 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