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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2022
Bader, Ingrid; Freilinger, M.; Landauer, F.; Waldmueller, S.; Mueller-Felber, W.; Rauscher, C.; Sperl, W.; Bittner, R. E.; Schmidt, W. M. und Mayr, J. A.
(2022):
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ss-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 279
2016
Bader, Ingrid; Decker, E.; Mayr, J. A.; Lunzer, V.; Koch, J.; Boltshauser, E.; Sperl, W.; Pietsch, P.; Ertl-Wagner, B.; Bolz, H.; Bergmann, C. und Rittinger, O.
(2016):
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
In: European Journal of Medical Genetics, Bd. 59, Nr. 8: S. 386-391
1997
Decsi, Tamás; Sperl, W. und Koletzko, Berthold
(1997):
Essential fatty acids in clinically stable children with propionic acidaemia.
In: Journal of inherited metabolic disease, Bd. 20, Nr. 6: S. 778-782
1995
Decsi, Tamás; Zaknun, D.; Zaknun, J.; Sperl, W. und Koletzko, Berthold
(1995):
Long-chain polyunsaturated fatty acids in children with severe protein-energy malnutrition with and without human immunodeficiency virus-1 infection.
In: American journal of clinical nutrition, Bd. 62, Nr. 6: S. 1283-1288