11 Einträge gefunden

1. 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
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. 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
4. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

   1. Danyel, Magdalena
   2. Kortüm, Fanny
   3. Dathe, Katarina
   4. Kutsche, Kerstin
   5. Horn, Denise

   2018 - Forschungsinformationssystem des UKE
5. 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
6. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

   1. Vogel, Markus
   2. Velleuer, Eunike
   3. Schmidt-Jiménez, Leon F
   4. Mayatepek, Ertan
   5. Borkhardt, Arndt
   6. Alawi, Malik
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
7. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

   1. Girisha, Katta Mohan
   2. Kortüm, Fanny
   3. Shah, Hitesh
   4. Alawi, Malik
   5. Dalal, Ashwin
   6. Bhavani, Gandham SriLakshmi
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
8. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

   1. Abdollahpour, Hengameh
   2. Alawi, Malik
   3. Kortüm, Fanny
   4. Beckstette, Michael
   5. Seemanova, Eva
   6. Komárek, Vladimír
   7. Rosenberger, Georg

   2015 - Forschungsinformationssystem des UKE
9. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

   1. Kortüm, Fanny
   2. Abdollahpour, Hengameh
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Seemanova, Eva
   6. Tinschert, Sigrid
   7. Zenker, Martin

   2014 - Forschungsinformationssystem des UKE
10. Phenotypic spectrum associated with CASK loss-of-function mutations.

    1. Moog, Ute
    2. Kutsche, Kerstin
    3. Kortüm, Fanny
    4. Chilian, Bettina
    5. Bierhals, Tatjana
    6. Apeshiotis, Neophytos
    7. Balg, Stefanie

    2011 - Forschungsinformationssystem des UKE
11. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

    1. Kortüm, Fanny
    2. Chyrek, Magdalena
    3. Fuchs, Sigrid
    4. Albrecht, B
    5. Gillessen-Kaesbach, G
    6. Mütze, U
    7. Seemanova, E

    2011 - Forschungsinformationssystem des UKE