I. Jarvela

Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana

S. Torniainen, C. Dandara, M. Parker, 2009, BMC Genetics.

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

S. Leal, I. Schrauwen, E. Rahikkala, 2022, Molecular genetics & genomic medicine.

Correlation of intestinal disaccharidase activities with the C/T-13910 variant and age.

L. Peltonen, C. Forsblom, M. Kuokkanen, 2007, World journal of gastroenterology.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

Molecularly defined adult-type hypolactasia in school-aged children with a previous history of cow's milk allergy.

K. Saarinen, E. Savilahti, K. Kolho, 2006, World journal of gastroenterology.

The effect of complement factor H Y402H polymorphism on the outcome of photodynamic therapy in age-related macular degeneration.

P. Tommila, I. Immonen, S. Meri, 2007, European journal of ophthalmology.

Analysis of X chromosome inactivation in autism spectrum disorders

Thomas Bourgeron, Fabien Fauchereau, Xiaohong Gong, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

underlying Batten disease . Rapid diagnostic test for the major mutation

P. Munroe, S. Mole, H. Mitchison, 2022 .

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

L. Peltonen, T. Varilo, M. Kuokkanen, 2006, American journal of human genetics.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

W. Chung, S. Leal, F. Zou, 2021, Journal of Medical Genetics.

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

M. Shaw, J. Gécz, C. Shoubridge, 2019, Life Science Alliance.

Rapid diagnostic test for the major mutation underlying Batten disease.

P. Munroe, A. Syvänen, I. Järvelä, 1996, Journal of medical genetics.

Analysis of X chromosome inactivation in autism spectrum disorders

E. Bacchelli, A. Battaglia, T. Bourgeron, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.