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2025
Mark Transplacental sirolimus : a new treatment strategy for life-threatening fetal cardiac rhabdomyomas—a case report
Uno, Kaname ^LU ; Nomura, Yoji ; Kawaguchi, Masahiro ; Ebina, Anna ; Imanishi, Rina ; Kawai, Satoru and Hayakawa, Hiromi (2025) In Orphanet Journal of Rare Diseases 20(1).
- Contribution to journal › Letter
Mark Mitigating the impact of study-start delays in clinical trials for rare disorders : insights and lessons from a PKAN trial
Bracke, Marleen M.G. ; Polet, Sjoukje S. ; Plantinga, Mirjam and de Koning, Tom J. ^LU (2025) In Orphanet Journal of Rare Diseases 20(1).
- Contribution to journal › Article
Mark Results of a non-randomized, open-label phase I study evaluating the novel Immunomodulatory peptide TCP-25 for treatment of dystrophic epidermolysis bullosa
Wallblom, Karl ^LU ; Holmgren, Katja ; Lundgren, Sigrid ^LU ; Belfrage, Emma ^LU ; Hoppe, Torborg ; Hugerth, Matilda ; Lindqvist, Anna-Karin ^LU ; Sonkoly, Enikö and Schmidtchen, Artur ^LU (2025) In Orphanet Journal of Rare Diseases
- Contribution to journal › Article
2024
Mark Needs of amyloidosis patients and their care providers : design & first results of the _AMY-NEED_S research and care program
Ihne-Schubert, Sandra Michaela ^LU ; Radovic, Teresa ; Fries, Saskia ; Frantz, Stefan ; Einsele, Hermann ; Störk, Stefan and Neuderth, Silke (2024) In Orphanet Journal of Rare Diseases 19(1).
- Contribution to journal › Article
Mark Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A. ; Boelens, Jaap Jan ; Calbi, Valeria ; Eklund, Erik A. ^LU ; Grønborg, Sabine W. ; Fumagalli, Francesca ; Groeschel, Samuel and Lindemans, Caroline , et al. (2024) In Orphanet Journal of Rare Diseases 19(1).
- Contribution to journal › Article
Mark Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023
Klintö, Kristina ^LU and Becker, Magnus ^LU (2024) In Orphanet Journal of Rare Diseases 19(1).
- Contribution to journal › Debate/Note/Editorial
2023
Mark Schooling experiences in children with long-gap esophageal atresia compared with children with esophageal atresia and primary anastomosis : a Swedish study
Dellenmark-Blom, M. ; Reilly, C. ; Öst, E. ; Örnö Ax, S. ; Svensson, J. F. ; Kassa, A. M. ; Jönsson, L. ; Abrahamsson, K. ; Gatzinsky, V. and Tollne, Am , et al. (2023) In Orphanet Journal of Rare Diseases 18(1).
- Contribution to journal › Article
Mark Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective
Gisslander, Karl ^LU ; Mohammad, Aladdin ^LU ; Vaglio, Augusto and Little, Mark A. (2023) In Orphanet Journal of Rare Diseases 18. p.1-3
- Contribution to journal › Letter
2022
Mark Postoperative morbidity and health-related quality of life in children with delayed reconstruction of esophageal atresia : a nationwide Swedish study
Dellenmark-Blom, Michaela ; Örnö Ax, Sofie ; Öst, Elin ; Svensson, Jan F. ; Kassa, Ann Marie ; Jönsson, Linus ; Abrahamsson, Kate ; Gatzinsky, Vladimir ; Stenström, Pernilla ^LU and Tollne, Anna Maria , et al. (2022) In Orphanet Journal of Rare Diseases 17(1).
- Contribution to journal › Article
2021
Mark Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Sauter, Matthias ; Belousova, Elena ; Benedik, Mirjana P ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; D'Amato, Lisa ; d'Augères, Guillaume B and de Vries, Petrus J , et al. (2021) In Orphanet Journal of Rare Diseases 16. p.1-15
- Contribution to journal › Article

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