Works matching IS 17501172 AND DT 2021 AND VI 16
Results: 549
Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.
- Published in:
- 2021
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- Publication type:
- journal article
Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials.
- Published in:
- 2021
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- Publication type:
- journal article
Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines.
- Published in:
- 2021
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- Publication type:
- journal article
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
- Published in:
- 2021
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- Publication type:
- journal article
Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers.
- Published in:
- 2021
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- Publication type:
- journal article
Survival outcomes of surgery in patients with pulmonary large-cell neuroendocrine carcinoma: a retrospective single-institution analysis and literature review.
- Published in:
- 2021
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- Publication type:
- journal article
Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study.
- Published in:
- 2021
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- Publication type:
- journal article
Impact of pediatric hypophosphatasia on behavioral health and quality of life.
- Published in:
- 2021
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- Publication type:
- journal article
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
- Published in:
- 2021
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- Publication type:
- journal article
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience.
- Published in:
- 2021
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- Publication type:
- Letter
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
- Published in:
- 2021
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- Publication type:
- journal article
Survey on patients' organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe.
- Published in:
- 2021
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- Publication type:
- journal article
How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study.
- Published in:
- 2021
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- Publication type:
- journal article
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
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- 2021
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- Publication type:
- journal article
Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency.
- Published in:
- 2021
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- Publication type:
- Letter
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
- Published in:
- 2021
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- Publication type:
- journal article
Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups.
- Published in:
- 2021
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- Publication type:
- journal article
Role of patients associations in connective tissue calcifiying diseases: a position statement from EuroSoftCalc.Net group.
- Published in:
- 2021
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- Publication type:
- journal article
Time for a general approval of growth hormone treatment in adults with Prader-Willi syndrome.
- Published in:
- 2021
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- Publication type:
- Letter
Analysis of patient access to orphan drugs in Turkey.
- Published in:
- 2021
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- Publication type:
- journal article
Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study.
- Published in:
- 2021
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- Publication type:
- journal article
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
- Published in:
- 2021
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- Publication type:
- journal article
Experience of health care at a reference centre as reported by patients and parents of children with rare conditions.
- Published in:
- 2021
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- Publication type:
- journal article
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
Diagnostic and severity scores for Cockayne syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research.
- Published in:
- 2021
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- Publication type:
- Letter
Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to "TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases").
- Published in:
- 2021
- By:
- Publication type:
- Letter
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).
- Published in:
- 2021
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- Publication type:
- journal article
A new method for individual condylar osteotomy and repositioning guides used in patients with severe deformity secondary to condylar osteochondroma.
- Published in:
- 2021
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- Publication type:
- journal article
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
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- 2021
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- Publication type:
- journal article
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
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- 2021
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- Publication type:
- journal article
Suppressed prefrontal cortex oscillations associate with clinical pain in fibrodysplasia ossificans progressiva.
- Published in:
- 2021
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- Publication type:
- journal article
Initial predictors for short-term prognosis in anti-melanoma differentiation-associated protein-5 positive patients.
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- 2021
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- Publication type:
- journal article
Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients.
- Published in:
- 2021
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- Publication type:
- journal article
The relationship between quality of life and coping strategies of children with EB and their parents.
- Published in:
- 2021
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- Publication type:
- journal article
Release of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using a dermal regeneration template glove: the Foggia experience.
- Published in:
- 2021
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- Publication type:
- journal article
Using pre-existing social networks to determine the burden of disease and real-life needs in rare diseases: the example of Thygeson's superficial punctate keratitis.
- Published in:
- 2021
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- Publication type:
- journal article
Clinical analysis of chronic active EBV infection with coronary artery dilatation and a matched case-control study.
- Published in:
- 2021
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- Publication type:
- journal article
<sup>[18F]</sup>FDG Positron emission tomography with whole body magnetic resonance imaging (<sup>[18F]</sup>FDG-PET/MRI) as a diagnosis tool in Schwannomatosis.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Clinicopathological features of fibrosarcomatous dermatofibrosarcoma protuberans and the construction of a back-propagation neural network recognition model.
- Published in:
- 2021
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- Publication type:
- journal article
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.
- Published in:
- 2021
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- Publication type:
- journal article
The congenital sternoclavicular sinus: a single-institution retrospective study of 88 patients.
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- 2021
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- Publication type:
- journal article
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study.
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- 2021
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- Publication type:
- journal article
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
- Published in:
- 2021
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- Publication type:
- journal article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.
- Published in:
- 2021
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- Publication type:
- journal article
What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
- Published in:
- 2021
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- Publication type:
- Letter
Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia.
- Published in:
- 2021
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- Publication type:
- journal article
Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.
- Published in:
- 2021
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- Publication type:
- journal article
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
- Published in:
- 2021
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- Publication type:
- journal article