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Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

• Authors : Limongelli G; Iucolano S; Monda E ...

Subjects: Pediatrics; medicine.medical_specialty; Coronavirus disease 2019 (COVID-19)

• Source: Journal of Public Health (Oxford, England)

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The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system

• Authors : Manisha Balwani; Maricar Malinis; Praveena Narayanan

Subjects: Adult; Male; Pediatrics

• Source: Molecular Genetics and Metabolism

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Resources and tools for rare disease variant interpretation

• Authors : Luana Licata; Allegra Via; Paola Turina

Subjects: machine learning; Settore BIO/18; genome interpretation

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Fumarate hydratase-deficient renal cell carcinoma presenting as pelvicalyceal filling defect: an unusual presentation of a rare disease

• Authors : Aiyapa Aruna Ajjikuttira; Handoo Rhee; Pranav Sharma

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

• Source: BMJ Case Rep

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An Exceptional Etiology of a Rare Disease: Pneumatosis Intestinalis in the Intensive Care Unit due to Chronic Graft-Versus-Host Disease

• Authors : Beril Turan Erdoğan; Huseyin Ozkok; Taner Çalışkan

Subjects: Pediatrics; medicine.medical_specialty; chronic graft versus host disease

• Source: Türk Yoğun Bakim Derneği Dergisi, Vol 19, Iss 4, Pp 200-204 (2021)

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Evidentiary vacuum, epistemic communities and rare disease policymaking in India: an evolutionary policy perspective

• Authors : Shyamjeet Maniram Yadav; Saradindu Bhaduri; Academic staff unit

Subjects: Economics and Econometrics; Evidence-based policy; Political science

• Source: Journal of BioeconomicsJournal of Bioeconomics, 24(2), 133-152. Springer Netherlands

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Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study

• Authors : Pascal Gächter; Marc Pfister; Britta Steffens ...

Subjects: Male; Pediatrics; medicine.medical_specialty

• Source: Journal of Pharmacokinetics and PharmacodynamicsKoch, Gilbert; Steffens, Britta; Leroux, Stephanie; Gotta, Verena; Schropp, Johannes; Gächter, Pascal; Bachmann, Freya; Welzel, Tatjana; Janner,

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Bartholin gland carcinoma in a young female: a rare disease in an unusual age group

• Authors : Uzma Chishti; Munazza Akhtar; Romana Idress

Subjects: Adult; medicine.medical_specialty; Benign condition

• Source: BMJ Case Rep

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Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities

• Authors : Ronald M. Summers; Eliot L. Siegel; Faraz Farhadi

Subjects: education.field_of_study; Radiation; Conceptualization

• Source: PET Clin

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

• Authors : Gill Wilson; Anna de Burca; Marta Bleda ...

Subjects: Adult; Male; Proband

• Source: Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine,

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