Juhani Rapola

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Jouni Vesa, Elina Hellsten, Linda A. Verkruyse et al. · Nature · 1995 · 740 citations

Life Sciences, Genetics, Neuroscience +13

Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients

Jaakko Patrakka, Marjo Kestilä, Jorma Wartiovaara et al. · Kidney International · 2000 · 305 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

Klaus Zerres, Gabi M�cher, Jutta Becker et al. · American Journal of Medical Genetics · 1998 · 263 citations

Medicine, Genetics, Molecular Genetics +17

Prophylactic Treatment of Very Premature Infants with Human Surfactant

T. Allen Merritt, Mikko Hallman, Barry T. Bloom et al. · New England Journal of Medicine · 1986 · 254 citations

Medicine, Child Health, Pediatrics +13

Infantile type of so-called neuronal ceroid-lipofuscinosis

Pirkko Santavuori, Matti Haltia, Juhani Rapola et al. · Journal of the Neurological Sciences · 1973 · 244 citations

Medicine, Neurology, Pathology +6