Concepedia

Ilona Visapää

IV

6

Publications

746

Citations

6

H-Index

1998

Active since

Affiliations

University of Helsinki(Current)

Helsinki University Hospital

Public Health Institute

Institute for Molecular Medicine Finland

University of California, Los Angeles

Ilona Visapää is an author at University of Helsinki specializing in medicine, genetics, and pediatrics.

Top concepts

Publications per year

1998–2005

6

Publications

6

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

Jaakko Patrakka, Marjo Kestilä, Jorma Wartiovaara et al. · Kidney International · 2000 · 300 citations · Full text

, , +12

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa et al. · The American Journal of Human Genetics · 2002 · 293 citations · Full text

, , +8

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

Lisa Mee, Heli Honkala, Outi Kopra et al. · Human Molecular Genetics · 2005 · 71 citations · Full text

Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25

Ilona Visapää, Riitta Salonen, Teppo Varilo et al. · The American Journal of Human Genetics · 1999 · 38 citations · Full text

, , +5

Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37

Ilona Visapää, Vineta Fellman, Teppo Varilo et al. · The American Journal of Human Genetics · 1998 · 24 citations · Full text

, , +8

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