Concepedia
Statistics
Publications
11
Citations
483
H-Index
Active since
2013
Affiliations
Oulu University Hospital(Current)
University of Oulu
University of Helsinki
Helsinki University Hospital
Institute for Molecular Medicine Finland
Riikka Keski‐Filppula is an author at Oulu University Hospital specializing in life sciences, molecular genetics, and genetics.
Publications per year
2013–2021
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
Mikko Muona, Ryosuke Ishimura, Anni Laari et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Peer Arts, Annet Simons, Mofareh AlZahrani et al. · Genome Medicine · 2019 · 87 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen et al. · Nature Communications · 2019 · 57 citations · Full text
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye et al. · Nature Communications · 2017 · 51 citations · Full text
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer‐Zirnsak et al. · European Journal of Human Genetics · 2013 · 45 citations · Full text
Medicine, Biochemistry, Pathology +8
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