7 Einträge gefunden

1. Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling

   1. Hassani Nia, Fatemeh
   2. Woike, Daniel
   3. Kloth, Katja
   4. Kortüm, Fanny
   5. Kreienkamp, Hans-Jürgen

   2020 - Forschungsinformationssystem des UKE
2. Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

   1. Stark, Veronika C
   2. Hensen, Flemming
   3. Kutsche, Kerstin
   4. Kortüm, Fanny
   5. Olfe, Jakob
   6. Wiegand, Peter
   7. von Kodolitsch, Yskert

   2020 - Forschungsinformationssystem des UKE
3. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

   1. Schneeberger, Pauline E
   2. Kortüm, Fanny
   3. Korenke, Georg Christoph
   4. Alawi, Malik
   5. Santer, René
   6. Woidy, Mathias
   7. Buhas, Daniela

   2020 - Forschungsinformationssystem des UKE
4. 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
5. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

   1. Wang, Huijun
   2. Humbatova, Aytaj
   3. Liu, Yuanxiang
   4. Qin, Wen
   5. Lee, Mingyang
   6. Cesarato, Nicole
   7. Kortüm, Fanny

   2020 - Forschungsinformationssystem des UKE
6. The microdeletion syndrome 20q11–q12:Case report on a rare but recurrent microdeletion syndrome, Das Mikrodeletionssyndrom 20q11–q12:Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

   1. Weiss, Deike
   2. Kortüm, Fanny
   3. Driemeyer, Joenna
   4. Kloth, Katja

   2020 - Forschungsinformationssystem des UKE - frei zugänglich
7. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

   1. Kortüm, Fanny
   2. Niceta, Marcello
   3. Magliozzi, Monia
   4. Kubat, Katja Dumic
   5. Robertson, Stephen P
   6. Moresco, Angelica
   7. Dentici, Maria Lisa

   2020 - Forschungsinformationssystem des UKE