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von Hippel-Lindau
- Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paragangliomaAlexandre Buffet, Bruna Calsina, Shahida Flores, Sophie Giraud, Marion Lenglet, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický, Sophie Lejeune, Jean Louis Sadoul, Anne Barlier, Stephane Richard, Judith Favier, Nelly Burnichon, Betty Gardie, Patricia L Dahia, Mercedes Robledo, Anne-Paule Gimenez-RoqueploJournal of Medical Genetics Nov 2020, 57 (11) 752-759; DOI: 10.1136/jmedgenet-2019-106519
- Evidence for genetic anticipation in vonHippel-Lindau syndromeLaura Aronoff, David Malkin, Kalene van Engelen, Bailey Gallinger, Jonathan Wasserman, Raymond H Kim, Anita Villani, M Stephen Meyn, Harriet DrukerJournal of Medical Genetics Jun 2018, 55 (6) 395-402; DOI: 10.1136/jmedgenet-2017-104882
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