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International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03236-4
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- Article
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03323-6
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- Article
Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03352-1
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- Article
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03338-z
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- Publication type:
- Article
CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03334-3
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- Article
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03326-3
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- Article
Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03306-7
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- Article
Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03347-y
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- Publication type:
- Article
SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03341-4
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- Article
Prevalence of hearing loss in pseudohypoparathyroidism.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03299-3
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- Publication type:
- Article
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03287-7
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- Article
Meta-analysis of bone mineral density in adults with phenylketonuria.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03223-9
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- Publication type:
- Article
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03322-7
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- Publication type:
- Article
Epidemiology of Wilson disease in Germany – real-world insights from a claims data study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03351-2
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- Article
Preferences for coordinated care for rare diseases: discrete choice experiment.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03353-0
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- Publication type:
- Article
Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03345-0
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- Publication type:
- Article
A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03342-3
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- Publication type:
- Article
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03340-5
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- Publication type:
- Article
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03331-6
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- Article
Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh.
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- 2024
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- Publication type:
- Letter
Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03320-9
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- Publication type:
- Article
Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03339-y
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- Publication type:
- Article
Impact of the COVID-19 pandemic on the quality of care for juvenile idiopathic arthritis patients: insights from Thailand.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03330-7
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- Publication type:
- Article
Experiences of quality of life and access to health services among rare disease caregivers: a scoping review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03327-2
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- Publication type:
- Article
Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03329-0
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- Publication type:
- Article
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
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- 2024
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- Publication type:
- Correction Notice
Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03285-9
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- Publication type:
- Article
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03325-4
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- Publication type:
- Article
Turner Syndrome where are we?
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03337-0
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- Publication type:
- Article
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
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- Publication type:
- Article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03297-5
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- Publication type:
- Article
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03313-8
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- Publication type:
- Article
A human centred innovative approach based on persona in hereditary angioedema.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03302-x
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- Publication type:
- Article
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03203-z
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- Publication type:
- Article
A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03308-5
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- Publication type:
- Article
DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03298-4
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- Publication type:
- Article
Acid sphingomyelinase deficiency in France: a retrospective survival study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
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- Publication type:
- Article
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03301-y
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- Publication type:
- Article
Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03289-5
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- Publication type:
- Article
Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03277-9
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- Publication type:
- Article
Drug-associated porphyria: a pharmacovigilance study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03294-8
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- Publication type:
- Article
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03146-5
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- Publication type:
- Article
Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03201-1
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- Publication type:
- Article
Natural history in Malan syndrome: survey of 28 adults and literature review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03288-6
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- Publication type:
- Article
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03279-7
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- Publication type:
- Article
Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03291-x
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- Publication type:
- Article
Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03233-7
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- Publication type:
- Article
Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03291-x
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- Publication type:
- Article
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03290-y
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- Publication type:
- Article
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03290-y
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- Publication type:
- Article