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fontan failure in adult patients from physiology to solutions
Original title: “Fontan Failure in Adult Patients: From Physiology to Solutions.”
sensitive life stage periods and genetic susceptibility in the association between air pollution and ischaemic stroke risk a bayesian life course analysis
Original title: “Sensitive life-stage periods and genetic susceptibility in the association between air pollution and ischaemic stroke risk: a Bayesian life-course analysis.”
evaluating the impact of different natural history modeling methods on cost effectiveness decisions a case study in duchenne muscular dystrophy
Original title: “Evaluating the Impact of Different Natural History Modeling Methods on Cost-Effectiveness Decisions: A Case Study in Duchenne Muscular Dystrophy.”
oligoclonal expansion of atypical v 2 t cells in good s syndrome
Original title: “Oligoclonal expansion of atypical Vδ2(-) γδ T cells in Good's Syndrome.”
genetically supported drug target prioritization for rare diseases
Original title: “Genetically supported drug target prioritization for rare diseases.”
genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin
Original title: “Genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin.”
development and validation of the first needs based quality of life measure for individuals with manifest huntington s disease
Original title: “Development and validation of the first needs-based quality of life measure for individuals with manifest Huntington's disease.”
diagnosis by resolution ultrasound follow up of neonatal polypoid cystitis mimicking botryoid rhabdomyosarcoma
Original title: “Diagnosis by Resolution: Ultrasound Follow-Up of Neonatal Polypoid Cystitis Mimicking Botryoid Rhabdomyosarcoma.”
rare variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in parkinson s disease
Original title: “Rare-Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease.”
management of recurrent linear iga dermatosis of childhood in the absence of histopathology and immunofluorescence a case report from a low resource setting in south western uganda
Original title: “Management of Recurrent Linear IgA Dermatosis of Childhood in the Absence of Histopathology and Immunofluorescence: A Case Report from a Low-Resource Setting in South-Western Uganda.”
severe ectopic acth dependent cushing syndrome due to a neuroendocrine tumor of occult primary origin presenting with widespread metastases and early vertebral fractures a rare case report
Original title: “Severe Ectopic ACTH-Dependent Cushing Syndrome Due to a Neuroendocrine Tumor of Occult Primary Origin Presenting with Widespread Metastases and Early Vertebral Fractures: A Rare Case Report.”
cervical tuberculosis mimicking carcinoma of the cervix in a patient with long standing secondary amenorrhea
Original title: “Cervical tuberculosis mimicking carcinoma of the cervix in a patient with long-standing secondary amenorrhea.”
refractory candida orthopsilosis endocarditis in a hemodialysis patient the role of species level identification and surgical source control
Original title: “Refractory Candida orthopsilosis endocarditis in a hemodialysis patient: The role of species-level identification and surgical source control.”
mitochondrial mutation status symptom prevalence and neuroimaging characteristics in melas a systematic review and meta analysis
Original title: “Mitochondrial mutation status, symptom prevalence, and neuroimaging characteristics in MELAS: a systematic review and meta analysis.”
why intrinsic reduced susceptibility in rare fungal pathogens should be differentiated from intrinsic resistance an isham conceptual framework and narrative review
Original title: “Why intrinsic reduced susceptibility in rare fungal pathogens should be differentiated from intrinsic resistance: an ISHAM conceptual framework and narrative review.”
clinical utility of exome sequencing post exome testing decision changes in the management of children with suspected rare genetic disease
Original title: “Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease.”
comprehensive analysis of disease spectrum and mortality in sanjad sakati syndrome an international rare disease registry study
Original title: “Comprehensive Analysis of Disease Spectrum and Mortality in Sanjad-Sakati Syndrome: An International Rare Disease Registry Study.”
patient perspectives unmet needs and dilemmas in reproductive decision making for genodermatoses a qualitative interview study
Original title: “Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study.”
pathological advances and clinical management insights into primary pulmonary myxoid sarcoma harboring the rare ewsr1 creb1 fusion
Original title: “Pathological Advances and Clinical Management Insights into Primary Pulmonary Myxoid Sarcoma Harboring the Rare EWSR1::CREB1 Fusion.”
impacts of caring for children with inherited metabolic diseases for families a cross sectional study
Original title: “The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.”