Eva Horemuzova

Affiliations

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Publications (5)

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

NPJ genomic medicine

Avec: Prince Jacob , Hillevi Lindelöf , Cecilie F Rustad , Vernon Reid Sutton , Shahida Moosa , Prajna Udupa , Anna Hammarsjö , Gandham SriLakshmi Bhavani , Dominyka Batkovskyte , Kristian Tveten , Ashwin Dalal , Eva Horemuzova , Ann Nordgren , Emma Tham , Hitesh Shah , Else Merckoll , Laura Orellana , Gen Nishimura , Katta M Girisha , Giedre Grigelioniene

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Nature medicine

Avec: Giedre Grigelioniene , Hiroshi I Suzuki , Fulya Taylan , Fatemeh Mirzamohammadi , Zvi U Borochowitz , Ugur M Ayturk , Shay Tzur , Eva Horemuzova , Anna Lindstrand , Mary Ann Weis , Gintautas Grigelionis , Anna Hammarsjö , Elin Marsk , Ann Nordgren , Magnus Nordenskjöld , David R Eyre , Matthew L Warman , Gen Nishimura , Phillip A Sharp , Tatsuya Kobayashi

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.

Acta paediatrica (Oslo, Norway : 1992)

Avec: Alexandra Gkourogianni , Anenisia C Andrade , Björn-Anders Jonsson , Emma Segerlund , Antje Werner-Sperker , Eva Horemuzova , Jovanna Dahlgren , Magnus Burstedt , Ola Nilsson

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal of human genetics

Avec: Anna Hammarsjö , Maria Pettersson , David Chitayat , Atsuhiko Handa , Britt-Marie Anderlid , Marco Bartocci , Donald Basel , Dominyka Batkovskyte , Ana Beleza-Meireles , Peter Conner , Jesper Eisfeldt , Katta M Girisha , Brian Hon-Yin Chung , Eva Horemuzova , Hironobu Hyodo , Liene Korņejeva , Kristina Lagerstedt-Robinson , Angela E Lin , Måns Magnusson , Shahida Moosa , Shalini S Nayak , Daniel Nilsson , Hirofumi Ohashi , Naoko Ohashi-Fukuda , Henrik Stranneheim , Fulya Taylan , Rasa Traberg , Ulrika Voss , Valtteri Wirta , Ann Nordgren , Gen Nishimura , Anna Lindstrand , Giedre Grigelioniene

Case Report: Inversion of

Frontiers in endocrinology

Avec: Hillevi Lindelöf , Eva Horemuzova , Ulrika Voss , Ann Nordgren , Giedre Grigelioniene , Anna Hammarsjö

Réseau de co-auteurs

Anna Hammarsjö 4 collaborations

Ann Nordgren 4 collaborations

Giedre Grigelioniene 4 collaborations

Gen Nishimura 3 collaborations

Hillevi Lindelöf 2 collaborations

Shahida Moosa 2 collaborations

Dominyka Batkovskyte 2 collaborations

Katta M Girisha 2 collaborations

Fulya Taylan 2 collaborations

Anna Lindstrand 2 collaborations

Ulrika Voss 2 collaborations

Prince Jacob 1 collaboration

Cecilie F Rustad 1 collaboration

Vernon Reid Sutton 1 collaboration

Prajna Udupa 1 collaboration

Gandham SriLakshmi Bhavani 1 collaboration

Kristian Tveten 1 collaboration

Ashwin Dalal 1 collaboration

Emma Tham 1 collaboration

Hitesh Shah 1 collaboration

Else Merckoll 1 collaboration

Laura Orellana 1 collaboration

Hiroshi I Suzuki 1 collaboration

Fatemeh Mirzamohammadi 1 collaboration

Zvi U Borochowitz 1 collaboration

Ugur M Ayturk 1 collaboration

Shay Tzur 1 collaboration

Mary Ann Weis 1 collaboration

Gintautas Grigelionis 1 collaboration

Elin Marsk 1 collaboration

Magnus Nordenskjöld 1 collaboration

David R Eyre 1 collaboration

Matthew L Warman 1 collaboration

Phillip A Sharp 1 collaboration

Tatsuya Kobayashi 1 collaboration

Alexandra Gkourogianni 1 collaboration

Anenisia C Andrade 1 collaboration

Björn-Anders Jonsson 1 collaboration

Emma Segerlund 1 collaboration

Antje Werner-Sperker 1 collaboration

Jovanna Dahlgren 1 collaboration

Magnus Burstedt 1 collaboration

Ola Nilsson 1 collaboration

Maria Pettersson 1 collaboration

David Chitayat 1 collaboration

Atsuhiko Handa 1 collaboration

Britt-Marie Anderlid 1 collaboration

Marco Bartocci 1 collaboration

Donald Basel 1 collaboration

Ana Beleza-Meireles 1 collaboration

Peter Conner 1 collaboration

Jesper Eisfeldt 1 collaboration

Brian Hon-Yin Chung 1 collaboration

Hironobu Hyodo 1 collaboration

Liene Korņejeva 1 collaboration

Kristina Lagerstedt-Robinson 1 collaboration

Angela E Lin 1 collaboration

Måns Magnusson 1 collaboration

Shalini S Nayak 1 collaboration

Daniel Nilsson 1 collaboration

Hirofumi Ohashi 1 collaboration

Naoko Ohashi-Fukuda 1 collaboration

Henrik Stranneheim 1 collaboration

Rasa Traberg 1 collaboration

Valtteri Wirta 1 collaboration