Understanding rare variant contributions to autism: lessons from dystrophin-deficient model
Source: npj Genomic Medicine
Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine
Source: Orphanet Journal of Rare Diseases
Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic
Source: Orphanet Journal of Rare Diseases
Intracranial pressure monitoring in patients with spontaneous onset of orthostatic headache
Source: Journal of Headache and Pain
Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study
Source: Orphanet Journal of Rare Diseases
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