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Rare Disease Foundation

h-index: 9
Total citations: 320
Total papers: 10

Homepage: https://www.rarediseasefoundation.org/

Recent papers from Rare Disease Foundation

BRIGHT Coaching: A Randomized Controlled Trial on the Effectiveness of a Developmental Coach System to Empower Families of Children With Emerging Developmental DelayFrontiers in Pediatrics · 2019
Patient partner compensation in research and health care: the patient perspective on why and howPatient Experience Journal · 2018
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Orphanet Journal of Rare Diseases · 2012
Novel Mutations in FA2H -Associated NeurodegenerationJournal of Child Neurology · 2012
Dental Abnormalities in Schimke Immuno-osseous DysplasiaJournal of Dental Research · 2012
Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?Clinical Dysmorphology · 2010
Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusAmerican Journal of Medical Genetics Part A · 2009