Facetten
Zugriff
Einrichtung
Medientyp
- Text 81
Karte
Erscheinungsjahr
Autor/in
- Kutsche, Kerstin
- Alawi, Malik 12
- Rosenberger, Georg 12
- Kortüm, Fanny 11
- Bierhals, Tatjana 7
- alle zeigen
Sprache
81 Einträge gefunden
-
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
- Abdollahpour, Hengameh
- Alawi, Malik
- Kortüm, Fanny
- Beckstette, Michael
- Seemanova, Eva
- Komárek, Vladimír
- Rosenberger, Georg
-
-
-
Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome
- de Almeida, Hiram Larangeira
- Rossi, Gabriela
- de Abreu, Luciana Boff
- Bergamaschi, Cristina
- da Silva, Alessandra Banaszeski
- Kutsche, Kerstin
-
Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes
- Hillebrand, Mathias
- Millot, Nathalie
- Sheikhzadeh, Sara
- Rybczynski, Meike
- Gerth, Sabine
- Kölbel, Tilo
- Keyser, Britta
-
-
-
-
-
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
2013 - Forschungsinformationssystem des UKE -
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
- Brownstein, Catherine A
- Towne, Meghan C
- Luquette, Lovelace J
- Harris, David J
- Marinakis, Nicholas S
- Meinecke, Peter
- Kutsche, Kerstin
-
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
- Hüning, Irina
- Kutsche, Kerstin
- Rajaei, Saideh
- Erlandsson, Anna
- Lovmar, Lovisa
- Rundberg, Julia
- Stefanova, Margarita
-
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
2013 - Forschungsinformationssystem des UKE -
-
Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men
- Bayer, Janine
- Rune, Gabriele
- Kutsche, Kerstin
- Schwarze, Ulrike
- Kalisch, Raffael
- Büchel, Christian
- Sommer-Blöchl, Tobias
-
-
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
2012 - Forschungsinformationssystem des UKE - frei zugänglich -
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
2012 - Forschungsinformationssystem des UKE -
Phenotypic spectrum associated with CASK loss-of-function mutations.
- Moog, Ute
- Kutsche, Kerstin
- Kortüm, Fanny
- Chilian, Bettina
- Bierhals, Tatjana
- Apeshiotis, Neophytos
- Balg, Stefanie
-
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
- Kortüm, Fanny
- Chyrek, Magdalena
- Fuchs, Sigrid
- Albrecht, B
- Gillessen-Kaesbach, G
- Mütze, U
- Seemanova, E