Irma Järvelä
University of Helsinki(FI)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genetics and Neurodevelopmental Disorders, Digestive system and related health, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research
Most-Cited Works
- → Identification of a variant associated with adult-type hypolactasia(2002)1,045 cited
- → Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders(2012)442 cited
- → Y402H Polymorphism of Complement Factor H Affects Binding Affinity to C-Reactive Protein(2007)241 cited
- → A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27(2002)234 cited
- → Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation(2008)217 cited
- → Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)(2001)208 cited
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