Fachrepositorium Lebenswissenschaften

127 Treffer

Seiten

Suche

Publisso-Menue

Seiten

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

2025 . BRAND, Eva BRAND | Linhart, Aleš | Deegan, Patrick | Jurcut, Ruxandra | Pisani, Antonio | Torra, Roser | Feldt-Rasmussen, Ulla

Clinical severity grading of NF2-related schwannomatosis

2025 . Lawson McLean, Anna | Löschner, Denise | Farschtschi, Said | Dengler, Nora F. | Rosahl, Steffen K.

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

A 360-degree perspective on adeno-associated virus (AAV)-based gene therapy for haemophilia: Insights from the physician, the nurse and the patient

2024 . Miesbach, Wolfgang | Mulders, Greta | Breederveld, Daan | Pinachyan, Karen | Le Quellec, Sandra | Pabinger, Ingrid

Functional characterization of two DYRK1B variants causative of AOMS3

2024 . Detro-Dassen, Silvia | Sternberg, Anna | Lehmann, Sonja Maria | Schwandt, Katharina | Düsterhöft, Stefan | Becker, Walter

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 | Ristow, Inka

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

The parent and family impact of CLN3 disease: an observational survey-based study

2024 . Schulz, Angela | Patel, Nita | Brudvig, Jon J. | Stehr, Frank | Weimer, Jill M. | Augustine, Erika F.

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

2024 . Hwang, Austin | Kwon, Andie | Miller, Corinne H. | Reimer-Taschenbrecker, Antonia | Paller, Amy

Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey

2024 . Schwantje, Marit | Grünert, Sarah C. | Fuchs, Sabine

Seiten