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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

The first European consensus on principles of management for achondroplasia

2021 . Cormier-Daire, Valerie | AlSayed, Moeenaldeen | Ben-Omran, Tawfeg | de Sousa, Sérgio Bernardo | Boero, Silvio | Fredwall, Svein O. | Guillen-Navarro, Encarna | Irving, Melita | Lampe, Christian | Maghnie, Mohamad | Mortier, Geert | Peijin, Zagorka | Mohnike, Klaus

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

Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany

2021 . Witt, Stefanie | Kristensen, Kaja | Wiegand-Grefe, Silke | Boettcher, Johannes | Bloemeke, Janika | Wingartz, Christina | Bullinger, Monika | Quitmann, Julia

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

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

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia

2021 . Hennig, Verena | Schuh, Wolfgang | Neubert, Antje | Mielenz, Dirk | Jäck, Hans-Martin | Schneider, Holm

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy