Results 291 to 300 of about 1,474,438 (314)

Rare diseases in ophthalmology

Archivos de la Sociedad Española de Oftalmología (English Edition), 2022
J, Jiménez Benito, M A, Saornil Álvarez, L, Macías Molinero, N, Gajate Paniagua   +3 more
openaire   +2 more sources

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Genetics in Medicine, 2022
Ana S A Cohen, Emily G Farrow, Ahmed Abdelmoity   +2 more
exaly  

Rare advances for rare diseases

The Lancet Neurology, 2017
openaire   +2 more sources

Undiagnosed and Rare Diseases

Clinics in Perinatology, 2017
Robert M, Kliegman, Brett J, Bordini
openaire   +2 more sources

The Cost of Rare Diseases

JAMA, 2021
openaire   +2 more sources

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Nature, 2021
Qing-Dong Wang, Ryan S Dhindsa, Andrew R Harper   +2 more
exaly  

Is leptospirosis a “rare” disease?

Medical Journal of Australia, 1983
openaire   +2 more sources

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Nature Reviews Genetics, 2013
Kym M Boycott, Dennis E Bulman, Boycott Kym M   +2 more
exaly  

Clinical Trials in Rare Disease

Journal of Child Neurology, 2013
Erika F Augustine, Jonathan W Mink
exaly  

Genetic Modifiers and Rare Mendelian Disease

Genes, 2020
K M Tahsin Hassan Rahit, Maja Tarailo-Graovac   +1 more
exaly