Riikka Keski-Filppula

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

H. Brunner, R. Wevers, M. Parker, 2013, European Journal of Human Genetics.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

J. Schuurs-Hoeijmakers, A. Hoischen, J. Hehir-Kwa, 2019, Genome Medicine.

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

P. Miettinen, P. Myllynen, M. Ojaniemi, 2021, Journal of inherited metabolic disease.

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

O. Kuismin, J. Moilanen, E. Rahikkala, 2022, Journal of clinical medicine.

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI

P. Myllynen, Seppo Rytky, L. Risteli, 2017, Neuropediatrics.