Concepedia
Statistics
Publications
29
Citations
1.5K
H-Index
21
Active since
1985
Affiliations
University of Helsinki(Current)
Folkhälsans Forskningscentrum
Radboud University Nijmegen
Tampere University Hospital
Väestöliitto
Eeva‐Marja Sankila is an author at University of Helsinki specializing in genetics, life sciences, and human genetics.
Publications per year
1985–2017
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3
Tarja Joensuu, Riikka H. Hämäläinen, Bo Yuan et al. · The American Journal of Human Genetics · 2001 · 216 citations · Full text
Life Sciences, Genetics, Molecular Genetics +7
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
Eeva‐Marja Sankila, Leenamaija Pakarinen, H Kääriäinen et al. · Human Molecular Genetics · 1995 · 185 citations
Life Sciences, Genetics, Molecular Genetics +17
Aberrant splicing of the CHM gene is a significant cause of choroideremia
Eeva‐Marja Sankila, Ritva Tolvanen, José A. J. M. van den Hurk et al. · Nature Genetics · 1992 · 96 citations
Life Sciences, Genetics, Molecular Genetics +5
Further mutations in <i>Brain 4</i> (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
Maria Bitner‐Glindzicz, Peter D. Turnpenny, Pia Höglund et al. · Human Molecular Genetics · 1995 · 84 citations
Life Sciences, Genetics, Molecular Genetics +9
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis
Albert de la Chapelle, Eeva‐Marja Sankila, Mikael Lindlöf et al. · Clinical Genetics · 1985 · 77 citations
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