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Nature Genetics|March 2, 2010
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationAndrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, et al.
Family Process|May 16, 2025
Evaluation of the Health-Related Quality of Life and Mental Health of Parents With Children and Adolescents With a Rare Disease Based on the Results of a Randomized Controlled Trial to Investigate a Family-Based Intervention and an Online Intervention for Affected Families (CARE-FAM-NET)Antonia Steinberg, Johannes Boettcher, Anna Leidger, et al.
Pediatric Neurology|March 25, 2017
Management Strategies for CLN2 DiseaseRuth E Williams, Heather R Adams, Martin Blohm, et al.
Methods of Information in Medicine|May 11, 2021
Evidence-Based Health Informatics as the Foundation for the COVID-19 Response: A Joint Call for ActionLuis Fernandez-Luque, Andre W Kushniruk, Andrew Georgiou, et al.
Rofo : Fortschritte Auf Dem Gebiete Der Rontgenstrahlen Und Der Nuklearmedizin|March 16, 2026
Artificial Intelligence in Radiology: Unlocking New Dimensions of ValueFabian Bamberg, Gerhard Adam, Gerald Antoch, et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|July 30, 2024
Generative Pre-trained Transformer 4 analysis of cardiovascular magnetic resonance reports in suspected myocarditis: A multicenter studyKenan Kaya, Carsten Gietzen, Robert Hahnfeldt, et al.
American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Journal of Neuroendocrinology|November 26, 2024
Screening and surveillance practices for Multiple Endocrine Neoplasia type 1-related Neuroendocrine Tumours in European Neuroendocrine Tumor Society Centers of Excellence (ENETS CoE)-An ENETS MEN1 task force questionnaire studyCarolina R C Pieterman, Simona Grozinsky-Glasberg, Dermot O'Toole, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
Cancers|July 20, 2021
Evaluation of Integrated HPV DNA as Individualized Biomarkers for the Detection of Recurrent CIN2/3 during Post-Treatment SurveillanceHeike Hoyer, Grit Mehlhorn, Cornelia Scheungraber, et al.
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