6 Einträge gefunden

1. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

   1. Coste de Bagneaux, Pierre
   2. von Elsner, Leonie
   3. Bierhals, Tatjana
   4. Campiglio, Marta
   5. Johannsen, Jessika
   6. Obermair, Gerald J
   7. Hempel, Maja

   2020 - Forschungsinformationssystem des UKE
2. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

   1. Schneeberger, Pauline E
   2. Nayak, Shalini S
   3. Fuchs, Sigrid
   4. Kutsche, Kerstin
   5. Girisha, Katta M

   2020 - Forschungsinformationssystem des UKE
3. 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
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. Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

   1. Chateau, Antoinette
   2. Kutsche, Kerstin
   3. Fuchs, Sigrid
   4. Harms, Frederike
   5. Kruse, Carl-Heinz
   6. Mosam, Anisa

   2020 - Forschungsinformationssystem des UKE
6. Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature

   1. Rohdenburg, Christina
   2. Liersch, Julia
   3. Kutsche, Kerstin
   4. Schaller, Joerg

   2020 - Forschungsinformationssystem des UKE