Concepedia
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Publications
7
Citations
1.3K
H-Index
Active since
1995
Affiliations
University of Helsinki(Current)
University of Oulu
Helsinki University Hospital
University of California, Berkeley
Institute of Genetics
Eeva-Marja Sankila is an author at University of Helsinki specializing in medicine, genetics, and usher syndrome.
Publications per year
1995–2023
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
Kristiina Aittomäki, JoséLuis Dieguez Lucena, Pirjo Pakarinen et al. · Cell · 1995 · 980 citations · Full text
Medicine, Endocrinology, Genetics +14
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
Avital Adato, Sarah Vreugde, Tarja Joensuu et al. · European Journal of Human Genetics · 2002 · 174 citations · Full text
Life Sciences, Molecular Biology, Neuroscience +12
Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial
Robert E. MacLaren, Manuel Fischer, James A. Gow et al. · Nature Medicine · 2023 · 52 citations · Full text
Medicine, Ophthalmology, Pharmacotherapy +15
Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene
Kavitha Ratnam, Hanna Västinsalo, Austin Roorda et al. · JAMA Ophthalmology · 2012 · 44 citations
Medicine, Genetics, Ophthalmology +15
Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region
Tarja Joensuu, Gonzalo Blanco, Leenamaija Pakarinen et al. · Genomics · 1996 · 32 citations
Life Sciences, Genetics, Molecular Genetics +9
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