Sara Boenzi
AuthID: R-00G-1FH
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TITLE: Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease
AUTHORS: Pietro Sirleto; Cecilia Surace; Helena Santos; Enrico Bertini; Anna C Tomaiuolo; Antonietta Lombardo; Sara Boenzi; Elsa Bevivino; Carlo Dionisi Vici; Adriano Angioni;
PUBLISHED: 2009, SOURCE: PEDIATRIC RESEARCH, VOLUME: 65, ISSUE: 3
AUTHORS: Pietro Sirleto; Cecilia Surace; Helena Santos; Enrico Bertini; Anna C Tomaiuolo; Antonietta Lombardo; Sara Boenzi; Elsa Bevivino; Carlo Dionisi Vici; Adriano Angioni;
PUBLISHED: 2009, SOURCE: PEDIATRIC RESEARCH, VOLUME: 65, ISSUE: 3
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TITLE: Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type Full Text
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
