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The absence that makes the difference: choroidal abnormalities in Legius syndrome.
(2017-11)
Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and ...
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
(2016-07)
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ...
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
(2019-08)
OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...
The economic burden of malaria on households and the health system in a high transmission district of Mozambique.
(2019-11-11)
BACKGROUND: Malaria remains a leading cause of morbidity and mortality in Mozambique. Increased investments in malaria control have reduced the burden, but few studies have estimated the costs of malaria in the country. ...
Exploration heuristics decrease during youth.
(Springer Nature, 2022-10)
Deciding between exploring new avenues and exploiting known choices is central to learning, and this exploration-exploitation trade-off changes during development. Exploration is not a unitary concept, and humans deploy ...
Assessing performance of the Healthcare Access and Quality Index, overall and by select age groups, for 204 countries and territories, 1990-2019: a systematic analysis from the Global Burden of Disease Study 2019
(Elsevier, 2022-10-06)
BACKGROUND: Health-care needs change throughout the life course. It is thus crucial to assess whether health systems provide access to quality health care for all ages. Drawing from the Global Burden of Diseases, Injuries, ...
Nations within a nation: variations in epidemiological transition across the states of India, 1990-2016 in the Global Burden of Disease Study
(Elsevier, 2017-11-14)
BACKGROUND: 18% of the world's population lives in India, and many states of India have populations similar to those of large countries. Action to effectively improve population health in India requires availability of ...
The burden of chronic respiratory diseases and their heterogeneity across the states of India: the Global Burden of Disease Study 1990-2016
(Elsevier, 2018-09-12)
BACKGROUND: India has 18% of the global population and an increasing burden of chronic respiratory diseases. However, a systematic understanding of the distribution of chronic respiratory diseases and their trends over ...
Perception and practices of physicians in addressing the smokeless tobacco epidemic: findings from two States in India.
(2013)
BACKGROUND: Smokeless tobacco use in South Asia is believed to be a significant contributor to morbidity and mortality. In India, only a few studies involving health educational intervention by health care providers have ...
European Respiratory Society statement for defining respiratory exacerbations in children and adolescents with bronchiectasis for clinical trials.
(2022-11)
Bronchiectasis is being diagnosed increasingly in children and adolescents. Recurrent respiratory exacerbations are common in children and adolescents with this chronic pulmonary disorder. Respiratory exacerbations are ...