Researchposted Oct 21, 2020
Research Priorities for Rare Neurological Diseases: A Representative View of Patient Representatives and Health Care Professionals From the European Reference Network for Rare Neurological Diseases
Annemarie Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard, Holm Graessner
Under Review
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Researchposted Oct 21, 2020
Opioid-free Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-cervical Fixation: a Case-series Study Focused on Anti-hyperalgesic Approach
Carlos R Ramirez-Paesano, Albert Juanola Galcerán, Claudia Rodiera Clarens, Vicenç Gilete García, Bartolomé Oliver Abadal, Verónica Vilchez Cobo, Bibiana Ros Nebot, and 4 more authors
Under Review
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Researchposted Oct 21, 2020
Analysis of Patient Access to Orphan Drugs in Turkey
GÜVENÇ KOÇKAYA, Sibel Atalay, Gulpembe Oguzhan, Mustafa Kurnaz, Selin Okcun, Cigdem Sar Gedik, Mete Saylan, and 1 more authors
Under Review
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Researchposted Oct 21, 2020
The Economic Impact of Innovative Therapies for Rare Diseases on Healthcare Providers and the Healthcare System in Germany – The Example of Spinal Muscular Atrophy
Heiko Brennenstuhl, Kim Green, Dominic Störzinger, Torsten Hoppe-Tichy, Peter Burgard, Ulrike Klein, Stefan Kölker, and 7 more authors
Under Review
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Researchposted Oct 21, 2020
Clinicopathological Features of Fibrosarcomatous Dermatofibrosarcoma Protuberans and the Construction of a Back-Propagation Neural Network Recognition Model
Yanan Li, Jiaqi Liang, Xuewen Xu, Xian Jiang, Chuan Wang, Siyuan Chen, Bo Xiang, and 1 more authors
Under Review
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Researchposted Oct 21, 2020
New Inside Into Clinical Heterogeneity and Inheritance Diversity of FBLN5-Related Cutis Laxa
Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri, and 1 more authors
Under Review
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Researchposted Oct 21, 2020
Prenatal Diagnosis of Severe Mitochondrial Diseases Caused by Nuclear Gene Defects: A Study in Japan
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, and 12 more authors
Under Review
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Researchposted Oct 21, 2020
Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data From the German Registry for Congenital Hypothyroidism (HypoDok)
Julia Thomann, Sascha R. Tittel, Egbert Voß, Rudolf Oeverink, Katja Palm, Susanne Fricke-Otto, Klaus Kapelari, and 3 more authors
Under Review
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Researchupdated Oct 20, 2020
Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
Under Review
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Researchupdated Oct 20, 2020
RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks
Rosaria Talarico, Sara Cannizzo, Valentina Lorenzoni, Diana Marinello, Ilaria Palla, Salvatore Pirri, Simone Ticciati, and 5 more authors
Under Review
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