5 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. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

   1. Kortüm, Fanny
   2. Marquardt, Iris
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Spranger, Stephanie
   6. Meinecke, Peter
   7. Kutsche, Kerstin

   2017 - Forschungsinformationssystem des UKE
4. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

   1. Brownstein, Catherine A
   2. Towne, Meghan C
   3. Luquette, Lovelace J
   4. Harris, David J
   5. Marinakis, Nicholas S
   6. Meinecke, Peter
   7. Kutsche, Kerstin

   2013 - Forschungsinformationssystem des UKE
5. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

   1. Rau, Isabella
   2. Morleo, Manuela
   3. Rosenberger, Georg
   4. Iaconis, Daniela
   5. Orth, Ulrike
   6. Meinecke, Peter
   7. Lerer, Israela

   2006 - Forschungsinformationssystem des UKE