H. Kååriåinen

发表

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

J. Hurst, J. Leonard, C. Hall, 1998, Clinical dysmorphology.

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

L. Kunkel, A. Covone, N. Archidiacono, 1989, American journal of human genetics.

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

J. Weissenbach, A. Munnich, M. Devoto, 1993, Nature Genetics.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Kimberly Burton, Tsuneo Imai, Yan Song, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

A. Janssens, A. Cambon-Thomsen, M. Krawczak, 2011, European Journal of Human Genetics.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

B. Lorenz, D. Fischer, F. Parmeggiani, 2021, Orphanet Journal of Rare Diseases.

Polycystic kidney disease in children : a genetic and epidemiological study of 82 Finnish patients 481

H. Kååriåinen, 2022 .

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

A. Paetau, K. Majamaa, T. Varilo, 2005, American journal of human genetics.

Expanding screening for rare metabolic disease in the newborn: An analysis of costs, effect and ethical consequences for decision‐making in Finland

I. Autti-Rämö, H. Sintonen, K. Pulkki, 2005 .

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients

H. Kååriåinen, 2022 .

Familial pericentric inversion inv(8)(p23q11).

A. Lehesjoki, H. Kååriåinen, L. Chapelle, 1994, Journal of medical genetics.