4 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. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

   1. Schneeberger, Pauline E
   2. von Elsner, Leonie
   3. Barker, Emma L
   4. Meinecke, Peter
   5. Marquardt, Iris
   6. Alawi, Malik
   7. Steindl, Katharina

   2020 - Forschungsinformationssystem des UKE
3. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

   1. Karaca, Ender
   2. Posey, Jennifer E
   3. Bostwick, Bret
   4. Liu, Pengfei
   5. Gezdirici, Alper
   6. Yesil, Gozde
   7. Coban Akdemir, Zeynep

   2019 - Forschungsinformationssystem des UKE
4. 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