PROGRESSIVE MYOCLONUS EPILEPSY: GENETIC AND NOSOLOGICAL ASPECTS WITH SPECIAL REFERENCE TO 107 FINNISH PATIENTSNORIO R; KOSKINTEMI M.1979; CLIN. GENET.; DNK; DA. 1979; VOL. 15; NO 5; PP. 382-398; BIBL. 2 P.Article

THE HYDROLETHALUS SYNDROME: DELINEATION OF A "NEW", LETHAL MALFORMATION SYNDROME BASED ON 28 PATIENTSSALONEN R; HERVA R; NORIO R et al.1981; CLIN. GENET.; ISSN 0009-9163; DNK; DA. 1981; VOL. 19; NO 5; PP. 321-330; BIBL. 7 REF.Article

THICKENINGS IN THE CORONARY ARTERIES IN INFANCY AS AN INDICATION OF GENETIC FACTORS IN CORONARY HEART DISEASE = LES EPAISSISSEMENTS DES ARTERES CORONAIRES DANS LA PREMIERE ENFANCE COMME INDICATION DE FACTEURS GENETIQUES DANS LA CARDIOPATHIE CORONARIENNEPESONEN E; NORIO R; SARNA S et al.1975; CIRCULATION; U.S.A.; DA. 1975; VOL. 51; NO 2; PP. 218-225; BIBL. 25 REF.Article

Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1MÄNNIKKÖ, M; KESTILÄ, M; HOLMBERG, C et al.American journal of human genetics. 1995, Vol 57, Num 6, pp 1377-1383, issn 0002-9297Article

Evaluation of genetic counselling: recall of information, post-counselling reproduction, and attitude of the counselleesSOMER, M; MUSTONEN, H; NORIO, R et al.Clinical genetics. 1988, Vol 34, Num 6, pp 352-365, issn 0009-9163Article

ATRIAL MYXOMA IN A FAMILY.SILTANEN P; TUUTERI L; NORIO R et al.1976; AMER. J. CARDIOL.; U.S.A.; DA. 1976; VOL. 38; NO 2; PP. 252-256; BIBL. 38 REF.Article

RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestationsKAARIAINEN, H; RYOPPY, S; NORIO, R et al.American journal of medical genetics. 1989, Vol 33, Num 3, pp 346-351, issn 0148-7299Article

Dominant inheritance of tooth malpositions and their association to hypodontiaSVINHUFVUD, E; MYLLARNIEMI, S; NORIO, R et al.Clinical genetics. 1988, Vol 34, Num 6, pp 373-381, issn 0009-9163Article

PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy) : neuroradiologic findingsSOMER, M; SALONEN, O; PIHKO, H et al.American journal of neuroradiology. 1993, Vol 14, Num 4, pp 861-867, issn 0195-6108Article

Further delineation of the Cohen syndrome; report on chrorioretinal dystrophy, leukopenia and consanguinityNORIO, R; RAITTA, C; LINDAHL, E et al.Clinical genetics. 1984, Vol 25, Num 1, pp 1-14, issn 0009-9163Article

Hypopigmented skin alterations resembling tuberous sclerosis in normal skinNORIO, R; OKSANEN, T; RANTANEN, J et al.Journal of medical genetics. 1996, Vol 33, Num 3, pp 184-186, issn 0022-2593Article

Intimal thickening of the coronary arteries in infants in relation to family history of coronary artery diseaseKAPRIO, J; NORIO, R; PESONEN, E et al.Circulation (New York, N.Y.). 1993, Vol 87, Num 6, pp 1960-1968, issn 0009-7322Article

Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory dataKAARIAINEN, H; KOSKIMIES, O; NORIO, R et al.Pediatric nephrology (Berlin, West). 1988, Vol 2, Num 3, pp 296-302, issn 0931-041XArticle

FAMILIAL OCCURENCE OF LUMBAR SPONDYLOLYSIS AND SPONDYLOLISTHESIS.HAUKIPURO K; KERANEN N; KOIVISTO E et al.1978; CLIN. GENET.; DENM.; DA. 1978; VOL. 13; NO 6; PP. 471-476; BIBL. 13 REF.Article

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)PENNACCHIO, L. A; LEHESJOKI, A.-E; WARRINGTON, J. A et al.Science (Washington, D.C.). 1996, Vol 271, Num 5256, pp 1731-1734, issn 0036-8075Article

The age of human mutation : Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the finnish populationVARILO, T; SAVUKOSKI, M; NORIO, R et al.American journal of human genetics. 1996, Vol 58, Num 3, pp 506-512, issn 0002-9297Article

Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary reportJOY, J. E; POGLOD, R; MURPHY, D. L et al.Applied and theoretical electrophoresis. 1991, Vol 2, Num 1, pp 3-5, issn 0954-6642, 3 p.Article

Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidaseMURPHY, D. L; SIMS, K. B; KAROUM, F et al.Journal of neural transmission. 1991, Vol 83, Num 1-2, pp 1-12, issn 0300-9564, 12 p.Article

Genome-wide linkage scan for loci of musical aptitude in Finnish families : evidence for a major locus at 4q22PULLI, K; KARMA, K; NORIO, R et al.Journal of medical genetics. 2008, Vol 45, Num 7, pp 451-456, issn 0022-2593, 6 p.Article

Granulocytopenia in Cohen syndromeKIVITIE-KALLIO, S; RAJANTIE, J; JUVONEN, E et al.British journal of haematology. 1997, Vol 98, Num 2, pp 308-311, issn 0007-1048Article

Cystic fibrosis in a low-incidence population : two major mutations in FinlandKERE, J; ESTIVILL, X; CHILLON, M et al.Human genetics. 1994, Vol 93, Num 2, pp 162-166, issn 0340-6717Article

Linkage studies in progressive myoclonus epilepsy : Unverricht-Lundborg and Lafora's diseasesLEHESJOKI, A.-E; KOSHINIEMI, M; DE LA CHAPELLE, A et al.Neurology. 1992, Vol 42, Num 8, pp 1545-1550, issn 0028-3878Article

Cystic fibrosis in Finland: a molecular and genealogical studyKERE, J; NORIO, R; SAVILAHTI, E et al.Human genetics. 1989, Vol 83, Num 1, pp 20-25, issn 0340-6717Article

Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomograhyKAARIAINEN, H; JAASKELAINEN, J; KIVISAARI, L et al.Pediatric radiology. 1988, Vol 18, Num 1, pp 45-50, issn 0301-0449Article

People and culture. Part 3WESTERHOLM, J; SIIRILÄ, S; VAATTTOVAARA, M et al.Fennia (Helsinki. 1889). 2002, Vol 180, Num 1-2, pp 123-182, issn 0015-0010, 60 p.Article