Heart, Lung, Blood and Sleep Disorders
Records 1 - 4 (of 4 Records) |
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Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis. Lisa Sniderman King et al. Mol Genet Metab 139(1) 107565 |
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease. Spendlove Sarah J et al. HGG advances 2022 3(3) 100112 |
When You Don?t Know, You Feel Alone in the World? The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019 |
Mucopolysaccharidoses: early diagnostic signs in infants and children. Galimberti Cinzia et al. Italian journal of pediatrics 2018 Nov 44(Suppl 2) 133 |