Fachrepositorium Lebenswissenschaften

15 Treffer

Seiten

Suche

Publisso-Menue

Seiten

Clinical management of female patients with Fabry disease based on expert consensus

2025 . BRAND, Eva BRAND

Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors

2024 . Schmalhofer, Marie-Lena | Farschtschi, Said | Kluwe, Lan | Mautner, Victor Felix | Adam, Gerhard | Well, Lennart

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers

2024 . Truninger, Moritz Ilan | Werner, Helene | Landolt, Markus | Hahn, Andreas | Hennermann, Julia B. | Lagler, Florian B.

Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome

2024 . Braun, Sina | Laemmer, Constanze | Schulte, Sandra | Gohlke, Bettina

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

2021 . Körber, Laura | Schneider, Holm | Fleischer, Nicole | Maier-Wohlfart, Sigrun

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

2021 . Dworschak, Gabriel | Reutter, Heiko M. | Ludwig, Michael

Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)

2021 . Avanesov, Maxim | Well, Lennart | Laqmani, Azien | Derlin, Thorsten | Riccardi, Vincent M. | Adam, Gerhard | Mautner, Victor-Felix | Salamon, Johannes

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

2021 . Reinert, Marie-Christine | Pacheu-Grau, David | Catarino, Claudia B. | Klopstock, Thomas | Ohlenbusch, Andreas | Schittkowski, Michael | Wilichowski, Ekkehard | Rehling, Peter | Brockmann, Knut

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

2021 . , Andrea | Catarino, Claudia B. | Rampeltshammer, Verena | Schindler, David | Gallenmüller, Constanze | Priglinger, Claudia | Pogarell, Oliver | Rüther, Tobias | Klopstock, Thomas

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

2021 . Depping, Miriam Katharina | Uhlenbusch, Natalie | von Kodolitsch, Yskert | Klose, Hans F. E. | Mautner, Victor-Felix | Löwe, Bernd

Seiten