Resultados da busca - Eija H. Seppälä

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  1. 1
    A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

    A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery por Kaisa Kyöstilä, Sigitas Cizinauskas, Eija H. Seppälä, E. Suhonen, Janis Jeserevics, Antti Sukura, Pernilla Syrjä, Hannes Lohi

    Publicado em 2012
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  2. 2
    CHEK2 variants associate with hereditary prostate cancer

    CHEK2 variants associate with hereditary prostate cancer por Eija H. Seppälä, Tarja Ikonen, Nina Mononen, Ville Autio, Annika Rökman, Mika Matikainen, Teuvo L.J. Tammela, Johanna Schleutker

    Publicado em 2003
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  3. 3
    Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

    Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure por Sari Vanninen, Krista Leivo, Eija H. Seppälä, Katriina Aalto‐Setälä, Olli Pitkänen, Piia Suursalmi, Antti-Pekka Annala, Ismo Anttila, Tero‐Pekka Alastalo, Samuel Myllykangas, Tiina Heliö, Juha Koskenvuo

    Publicado em 2018
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  4. 4
    Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

    Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs por Eija H. Seppälä, Lotta L. E. Koskinen, Christina Hedal Gulløv, Päivi Jokinen, Peter Karlskov‐Mortensen, Luciana Bergamasco, Izabella Baranowska Körberg, Sigitas Cizinauskas, Anita M. Oberbauer, Mette Berendt, Merete Fredholm, Hannes Lohi

    Publicado em 2012
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  5. 5
    LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

    LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs por Eija H. Seppälä, Tarja S. Jokinen, Masaki Fukata, Yuko Fukata, Matthew T. Webster, Elinor K. Karlsson, Sami Kilpinen, Frank Steffen, Elisabeth Dietschi, Tosso Leeb, Ranja Eklund, Xiaochu Zhao, Jennifer J. Rilstone, Kerstin Lindblad‐Toh, Berge A. Minassian, Hannes Lohi

    Publicado em 2011
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  6. 6
    Germline Alterations of the RNASEL Gene, a Candidate HPC1 Gene at 1q25, in Patients and Families with Prostate Cancer

    Germline Alterations of the RNASEL Gene, a Candidate HPC1 Gene at 1q25, in Patients and Families with Prostate Cancer por Annika Rökman, Tarja Ikonen, Eija H. Seppälä, Nina N. Nupponen, Ville Autio, Nina Mononen, Joan E. Bailey‐Wilson, Jeffrey M. Trent, John D. Carpten, Mika Matikainen, Pasi A. Koivisto, Teuvo L.J. Tammela, Olli Kallioniemi, Johanna Schleutker

    Publicado em 2002
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  7. 7
    Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

    Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients por Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas‐Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero‐Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

    Publicado em 2021
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  8. 8
    A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

    A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease por Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S. Jokinen, Eija H. Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin Hultin Jäderlund, Anu K. Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb

    Publicado em 2015
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  9. 9
    Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

    Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping por Amaury Vaysse, Abhirami Ratnakumar, Thomas Derrien, Erik Axelsson, Gerli Pielberg, Snævar Sigurðsson, Tove Fall, Eija H. Seppälä, Mark S. Hansen, Cindy Lawley, Elinor K. Karlsson, Danika L. Bannasch, Carles Vilà, Hannes Lohi, Francis Galibert, Merete Fredholm, Jens Häggström, Åke Hedhammar, Catherine André, Kerstin Lindblad‐Toh, Christophe Hitte, Matthew T. Webster

    Publicado em 2011
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  10. 10
    Breed Differences in Natriuretic Peptides in Healthy Dogs

    Breed Differences in Natriuretic Peptides in Healthy Dogs por K. Sjöstrand, Gerhard Wess, Ingrid Ljungvall, Jens Häggström, Anne‐Christine Merveille, Maria Wiberg, Vassiliki Gouni, Jakob L. Willesen, Sofia Hanås, Anne‐Sophie Lequarré, L. Mejer Sørensen, Johanna Wolf, Laurent Tiret, Marcin Kierczak, Simon K. G. Forsberg, Kathleen Mc Entee, Géraldine Battaille, Eija H. Seppälä, K. Lindblad‐Toh, Michel Georges, Hannes Lohi, Valérie Chetboul, Merete Fredholm, Katja Höglund

    Publicado em 2014
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  11. 11
    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach por Steven M. Harrison, Jill Dolinksy, Wenjie Chen, Christin Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Amy E. Knight Johnson, Juha Koskenvuo, Hane Lee, Rong Mao, Rebecca Mar‐Heyming, Andrew McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni Santani, Eija H. Seppälä, Brian H. Shirts, Timothy Tidwell, Scott Topper, Lisa M. Vincent, Kathy M. B. Vinette, Heidi L. Rehm

    Publicado em 2018
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