5 Einträge gefunden

1. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

   1. Girisha, Katta M
   2. von Elsner, Leonie
   3. Neethukrishna, Kausthubham
   4. Muranjan, Mamta
   5. Shukla, Anju
   6. Bhavani, Gandham SriLakshmi
   7. Nishimura, Gen

   2019 - Forschungsinformationssystem des UKE
2. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

   1. Kloth, Katja
   2. Bierhals, Tatjana
   3. Johannsen, Jessika
   4. Harms, Frederike L
   5. Juusola, Jane
   6. Johnson, Mark C
   7. Grange, Dorothy K

   2019 - Forschungsinformationssystem des UKE
3. Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

   1. Mühlstädt, Kristina
   2. De Backer, Julie
   3. von Kodolitsch, Yskert
   4. Kutsche, Kerstin
   5. Muiño Mosquera, Laura
   6. Brickwedel, Jens
   7. Girdauskas, Evaldas

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
4. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome

   1. Bauer, Christiane K
   2. Schneeberger, Pauline E
   3. Kortüm, Fanny
   4. Altmüller, Janine
   5. Santos-Simarro, Fernando
   6. Baker, Laura
   7. Keller-Ramey, Jennifer

   2019 - Forschungsinformationssystem des UKE
5. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich