Perttì Aula

A deletion in chromosome 22 can cause digeorge syndrome

Albert de la Chapelle, Riitta Herva, Maila Koivisto et al. · Human Genetics · 1981 · 378 citations

Genetic Disorder, Genetics, Pathology +3

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 292 citations

Anion Transporter, Genetic Disorder, Natural Sciences +12

The 11q;22q translocation: A European collaborative analysis of 43 cases

M. Fraccaro, J. Lindsten, C. E. Ford et al. · Human Genetics · 1980 · 201 citations

European Collaborative Analysis

'Salla Disease'

Perttì Aula · Archives of Neurology · 1979 · 143 citations

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Irma Järvelä, Johanna Schleutker, Leena Haataja et al. · Genomics · 1991 · 133 citations

Short Arm, Molecular Neuroscience, Developmental Biology +11