Researchupdated Oct 28, 2020
Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.
Tarin A Europa, Melissa Nel, Jeannine M Heckmann
Under Review
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Researchupdated Oct 28, 2020
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, and 14 more authors
Under Review
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Researchupdated Oct 28, 2020
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease
Aimee Donald, Chong Yew Tan, Anupam Chakrapani, Derralyn Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, and 3 more authors
Under Review
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Researchupdated Oct 28, 2020
The prognostic role of plasma fibrinogen in adult secondary hemophagocytic lymphohistiocytosis
Guangli Yin, Changfeng Man, Jiayu Huang, Shengen Liao, Xin Gao, Tian Tian, Limin Duan, and 2 more authors
Under Review
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Researchupdated Oct 28, 2020
Clinical features of a Chinese female nongestational choriocarcinoma cohort: a retrospective study of 37 patients
Yuming Shao, Yang Xiang, Fang Jiang, Boju Pan, Xirun Wan, Junjun Yang, Fengzhi Feng, and 2 more authors
Under Review
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Researchposted Oct 28, 2020
Clinical Features and Disease Severity in Patients With Mosaic Neurofibromatosis Type 1: A Single-Center Study and Literature Review
Maj Raundahl, Pernille Axel Gregersen, Mette Møller Handrup, Cecilie Ejerskov
Under Review
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Researchposted Oct 28, 2020
Neuropsychiatric, Cognitive and Sexual Impairment in Mastocytosis Patients
Fatma JENDOUBI, Maella SEVERINO-FREIRE, Mathilde NEGRETTO, Christophe ARBUS, Carle PAUL, Cristina Bulai Livideanu
Under Review
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Researchposted Oct 28, 2020
Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era – A UK Experience
Ataf H Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D Calder, Ana Beleza-Meireles, Moira S Cheung, Alessandra Cocca, and 7 more authors
Under Review
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Researchposted Oct 28, 2020
Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients
Sara Mole, Angela Schulz, Eben Badoe, Samuel Berkovic, Emily de Los Reyes, Simon Dulz, Paul Gissen, and 13 more authors
Under Review
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Researchposted Oct 28, 2020
Genetic Spectrum and Clinical Early Natural History of Glucose-6-Phosphate Dehydrogenase Deficiency in Mexican Children Detected Through Newborn Screening.
Marcela Vela-Amieva, Miguel Ángel Alcántara-Ortigoza, Ariadna González del Angel, Leticia Martínez-Belmont, Carlos López-Candiani, Isabel Ibarra-Gonzalez
Under Review
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