6 Einträge gefunden

1. The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature

   1. Kloth, Katja
   2. Klohs, Stefan
   3. Bhullar, Jasmin
   4. Boettcher, Michael
   5. Hempel, Maja
   6. Trah, Julian
   7. Reinshagen, Konrad

   2022 - Forschungsinformationssystem des UKE
2. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

   1. Eggermann, Thomas
   2. Kraft, Florian
   3. Kloth, Katja
   4. Klopocki, Eva
   5. Hüning, Irina
   6. Hempel, Maja
   7. Kunstmann, Erdmute

   2020 - Forschungsinformationssystem des UKE
3. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

   1. Kloth, Katja
   2. Renner, Sina
   3. Burmester, Gunter
   4. Steinemann, Doris
   5. Pabst, Brigitte
   6. Lorenz, Birgit
   7. Simon, Ronald

   2019 - Forschungsinformationssystem des UKE
4. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

   1. Johannsen, Jessika
   2. Bierhals, Tatjana
   3. Deindl, Philipp
   4. Hecher, Laura
   5. Hermann, Katharina
   6. Hempel, Maja
   7. Kloth, Katja

   2019 - Forschungsinformationssystem des UKE
5. 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
6. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

   1. Kloth, Katja
   2. Denecke, Jonas
   3. Hempel, Maja
   4. Johannsen, Jessika
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Lessel, Davor

   2017 - Forschungsinformationssystem des UKE