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Publications 1989 2019

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Review Article
2013

Kehitysvammaisuuden ja autismin geenitutkimusten nykytilanne

Järvelä, I., 22 Feb 2013, In : Suomen lääkärilehti. 68, 8, p. 575-579a 6 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

2011

Avokulmaglaukooman geenitutkimuksen nykytilanne Suomessa

Forsman, E., Lemmelä, S., Puska, P. & Järvelä, I., 2011, In : Duodecim. 127, 14, p. 1426-31 5 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

2007

Musikaalisuus aivotutkimusten valossa

Seppänen, M. & Järvelä, I., 2007, In : Psykologia. 42, 5, p. 350-363 14 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

2006

Aspergers syndrom: medikalisering eller en medicinsk entitet att tas på allvar?

Wendt von, L., Järvelä, I., Tani, P., Avellan, A., Rehnström, K., Paavonen, J., Autti, T. & Nieminen-von Wendt, T., 2006, In : Finska Läkaresällskapets Handlingar. 166, 2, p. 55-61 7 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

2004

Genetic testing of adult-type hypolactasia (primary lactose malabsorption) in clinical practice

Järvelä, I., 2004, In : Klinisk biokemi i Norden.. 6, p. 8-11

Research output: Contribution to journalReview ArticleScientificpeer-review

Laktoosin imeytymishäiriön geenitestin soveltuvuus lasten ja nuorten tutkimiseen: [katsausartikkeli]

Kolho, K-L., Rasinperä, H., Järvelä, I. & Savilahti, E., 2004, In : Suomen lääkärilehti. 59, p. 3627-3629

Research output: Contribution to journalReview ArticleScientificpeer-review

2003

Geenitestit - miksi, kenelle, miten ja missä?

Orpana, A. & Järvelä, I., 2003, In : Suomen lääkärilehti. 58, p. 4707-4709

Research output: Contribution to journalReview ArticleScientificpeer-review

Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1)

Kestila, M. & Jarvela, I., 2003, In : Prenatal Diagnosis. 23, p. 323-324 2 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

2002

Laktoosin imeytymishäiriö ja sen diagnostiikka: [katsausartikkeli]

Savilahti, E. & Järvelä, I., 2002, In : Suomen lääkärilehti. 43, p. 4337-4341

Research output: Contribution to journalReview ArticleScientificpeer-review

2001

New mutations in the neuronal ceroid lipofuscinosis genes

Mole, S. E., Zhong, N. A., Sarpong, A., Logan, W. P., Hofmann, S., Yi, W., Franken, P. F., van Diggelen, O. P., Breuning, M. H., Moroziewicz, D., Ju, W., Salonen, T., Holmberg, V., Järvelä, I. & Taschner, P. E., 2001, In : European Journal of Paediatric Neurology. 5, Suppl. A, p. 7-10

Research output: Contribution to journalReview ArticleScientificpeer-review

1997

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

Syvanen, A. C., Jarvela, I., Paunio, T. & Vesa, J., 1997, In : Neuropediatrics. 28, p. 63-66 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Strategy for mutation detection in CLN3: Characterisation of two Finnish mutations

Munroe, P. B., ORawe, A. M., Mitchison, H. M., Jarvela, I. E., Santavuori, P., Lerner, T. J., Taschner, P. E. M., Gardiner, R. M. & Mole, S. E., 1997, In : Neuropediatrics. 28, p. 15-17 3 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

1993

LINKAGE ANALYSIS OF LATE-INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (CLN2) USING MARKERS ON CHROMOSOME-16P

WILLIAMS, R., MITCHISON, H., MCKAY, T., JARVELA, I. & GARDINER, R. M., 1993, In : Journal of Inherited Metabolic Disease. 16, p. 342-344 3 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

REFINED ASSIGNMENT OF THE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (INCL) LOCUS AT 1P32 AND THE CURRENT STATUS OF PRENATAL AND CARRIER DIAGNOSTICS

HELLSTEN, E., VESA, J., JARVELA, I., MAKELA, T. P., SANTAVUORI, P. & PELTONEN, L., 1993, In : Journal of Inherited Metabolic Disease. 16, p. 335-338 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Refined genetic mapping of juvenileonset neuronal ceroid-lipofuscinosis on chromosome 16

Mitchisson, H. M., Williams, R. E., McKay, T. R., Callen, D. F., Thompson, A. D., Mulley, J. C., Stallings, R. L., Hildebrand, C. E., Moyzis, R. K., Järvelä, I., Peltonen, L., Haines, J., Sutherland, G. R. & Gardiner, R. M., 1993, In : Journal of Inherited Metabolic Disease. 16, p. 339-341

Research output: Contribution to journalReview ArticleScientificpeer-review

1992

MOLECULAR-GENETICS OF NEURONAL CEROID LIPOFUSCINOSES

JARVELA, I., VESA, J., SANTAVUORI, P., HELLSTEN, E. & PELTONEN, L., 1992, In : Pediatric Research. 32, p. 645-648 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

1991

Geeninpaikannus selvittää neuronaalisten seroidilipofuskinoosien perussyyt: [pääkirjoitus]

Järvelä, I., Santavuori, P., Rapola, J. & Palotie, L., 1991, In : Duodecim. 107, p. 632-635

Research output: Contribution to journalReview ArticleScientificpeer-review

Neuronal ceroid lipofuscinoses: unfolding the genetic defect

Rapola, J. M., Järvelä, I. & Peltonen, L., 1991, In : Fetal and Pediatric Pathology (Print Edition). 11, p. 799-806

Research output: Contribution to journalReview ArticleScientificpeer-review