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rare cardiac genetic variation is associated with postoperative atrial fibrillation
Original title: “Rare Cardiac Genetic Variation Is Associated With Postoperative Atrial Fibrillation.”
endocrine complications in patients with congenital dyserythropoietic anemia a single center cohort study
Original title: “Endocrine Complications in Patients with Congenital Dyserythropoietic Anemia: A Single-Center Cohort Study.”
when two rare diseases meet atypical hemolytic uremic syndrome and alkaptonuria in two siblings
Original title: “When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings.”
metastatic metaplastic triple negative breast cancer response to sacituzumab govitecan and biomarker targetability
Original title: “Metastatic metaplastic triple negative breast cancer response to sacituzumab govitecan and biomarker targetability.”
premenopausal osteoporosis an under recognized window for early skeletal intervention
Original title: “Premenopausal Osteoporosis: An Under-recognized Window for Early Skeletal Intervention.”
superior vena cava syndrome immediately after transvenous lead extraction a rare but important complication
Original title: “Superior Vena Cava Syndrome Immediately After Transvenous Lead Extraction: A Rare But Important Complication.”
long term clinical and biomarker observations following rituximab exposure in two siblings with csf1r related leukoencephalopathy a preliminary familial case series
Original title: “Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.”
expanded carrier screening in china a focused narrative review and conceptual implementation framework
Original title: “Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.”
epidemiology of tardiomyces blankii formerly candida blankii and related species results of the international epiblankii study
Original title: “Epidemiology of Tardiomyces blankii (formerly Candida blankii) and related species: results of the International "Epiblankii" Study.”
birt hogg dub syndrome masquerading as multiple infected pulmonary cysts
Original title: “Birt-Hogg- Dubé Syndrome Masquerading as Multiple Infected Pulmonary Cysts.”
physical disability and quality of life burden in mccune albright syndrome a nationwide survey in japan
Original title: “Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan.”
mc1r variants in four chinese children with red hair and hypopigmentation
Original title: “MC1R variants in four Chinese children with red hair and hypopigmentation.”
diagnostic yield of laboratory based screening for hypophosphatasia among chinese children with low alkaline phosphatase
Original title: “Diagnostic Yield of Laboratory-Based Screening for Hypophosphatasia Among Chinese Children With Low Alkaline Phosphatase.”
strengthening rare disease data readiness a semantic approach to cross registry interoperability
Original title: “Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.”
personalized drug discovery from rare diseases to cancer
Original title: “Personalized drug discovery from rare diseases to cancer.”
tocilizumab for refractory cerebral arteritis in a patient with systemic lupus erythematosus a case report
Original title: “Tocilizumab for refractory cerebral arteritis in a patient with systemic lupus erythematosus: A case report.”
esophageal tuberculosis mimicking a neoplasm in a patient with hiv infection
Original title: “Esophageal tuberculosis mimicking a neoplasm in a patient with HIV infection.”
inflammation precedes paradoxical reactions in hiv negative patients with pulmonary tuberculosis
Original title: “Inflammation Precedes Paradoxical Reactions in HIV-Negative Patients With Pulmonary Tuberculosis.”
from delayed recognition to long term disease control eltrombopag in severe myh9 related disease
Original title: “From delayed recognition to long-term disease control: Eltrombopag in severe MYH9-related disease.”
unilateral pulmonary artery lesion in an immunocompromised patient
Original title: “Unilateral Pulmonary Artery Lesion in an Immunocompromised Patient.”