ProfileOfResearchers

TITLE: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy Full Text
AUTHORS: Mikko Muona; Samuel F Berkovic; Leanne M Dibbens; Karen L Oliver; Snezana Maljevic; Marta A Bayly; Tarja Joensuu; Laura Canafoglia; Silvana Franceschetti; Roberto Michelucci; Salla Markkinen; Sarah E Heron; Michael S Hildebrand; Eva Andermann; Frederick Andermann; Antonio Gambardella; Paolo Tinuper; Laura Licchetta; Ingrid E Scheffer; Chiara Criscuolo; Alessandro Filla; Edoardo Ferlazzo; Jamil Ahmad; Adeel Ahmad; Betul Baykan; Edith Said; Meral Topcu; Patrizia Riguzzi; Mary D King; Cigdem Ozkara; Danielle M Andrade; Bernt A Engelsen; Arielle Crespel; Matthias Lindenau; Ebba Lohmann; Veronica Saletti; João Massano ; Michael Privitera; Alberto J Espay; Birgit Kauffmann; Michael Duchowny; Rikke S Moller; Rachel Straussberg; Zaid Afawi; Bruria Ben Zeev; Kaitlin E Samocha; Mark J Daly; Steven Petrou; Holger Lerche; Aarno Palotie; Anna Elina Lehesjoki; ...More
PUBLISHED: 2015, SOURCE: NATURE GENETICS, VOLUME: 47, ISSUE: 1

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TITLE: International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation Full Text
AUTHORS: Ana Peixoto; Catarina Santos; Manuela Pinheiro; Pedro Pinto; Maria Jose Soares; Patricia Rocha; Leonor Gusmao ; Amorim, Antonio ; Annemarie van der Hout; Anne Marie Gerdes; Mads Thomassen; Torben A Kruse; Dorthe Cruger; Lone Sunde; Yves Jean Bignon; Nancy Uhrhammer; Lucie Cornil; Etienne Rouleau; Rosette Lidereau; Drakoulis Yannoukakos; Maroulio Pertesi; Steven Narod; Robert Royer; Mauricio M Costa; Conxi Lazaro; Lidia Feliubadalo; Begona Grana; Ignacio Blanco; Miguel de la Hoya; Trinidad Caldes; Philippe Maillet; Gaelle Benais Pont; Bruno Pardo; Yael Laitman; Eitan Friedman; Eladio A Velasco; Mercedes Duran; Maria Dolores Miramar; Ana R Rodriguez Valle; Maria Teresa Calvo; Ana Vega; Ana Blanco; Orland Diez; Sara Gutierrez Enriquez; Judith Balmana; Teresa R Y Ramon y Cajal; Carmen Alonso; Montserrat Baiget; William Foulkes; Marc Tischkowitz; Rachel Kyle; Nelly Sabbaghian; Patricia Ashton Prolla; Ingrid P Ewald; Thangarajan Rajkumar; Luisa Mota Vieira ; Giuseppe Giannini; Alberto Gulino; Maria I Achatz; Dirce M Carraro; Brigitte Bressac de Paillerets; Audrey Remenieras; Cindy Benson; Silvia Casadei; Mary Claire King; Erik Teugels; Manuel R Teixeira ; ...More
PUBLISHED: 2011, SOURCE: BREAST CANCER RESEARCH AND TREATMENT, VOLUME: 127, ISSUE: 3

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