Philippe Labrune
AuthID: R-00G-CSA
1
TITLE: Galactokinase deficiency: lessons from the GalNet registry
AUTHORS: Estela E Rubio Gozalbo; Britt Derks; Anibh Martin Das; Uta Meyer; Dorothea Moeslinger; Luz L Couce; Aurelie Empain; Can Ficicioglu; Natalia Julia Palacios; Mariela M D De Los Santos De Pelegrin; Isabel A Rivera; Sabine Scholl Buergi; Annet M Bosch; David Cassiman; Didem Demirbas; Matthias Gautschi; Ina Knerr; Philippe Labrune; Anastasia Skouma; Patrick Verloo; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
AUTHORS: Estela E Rubio Gozalbo; Britt Derks; Anibh Martin Das; Uta Meyer; Dorothea Moeslinger; Luz L Couce; Aurelie Empain; Can Ficicioglu; Natalia Julia Palacios; Mariela M D De Los Santos De Pelegrin; Isabel A Rivera; Sabine Scholl Buergi; Annet M Bosch; David Cassiman; Didem Demirbas; Matthias Gautschi; Ina Knerr; Philippe Labrune; Anastasia Skouma; Patrick Verloo; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: 
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Scopus WOS2
TITLE: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis Full Text
AUTHORS: Olivier Gribouval; Vincent Moriniere; Audrey Pawtowski; Christelle Arrondel; Satu Leena Sallinen; Carola Saloranta; Carol Clericuzio; Geraldine Viot; Julia Tantau; Sophie Blesson; Sylvie Cloarec; Marie Christine Machet; David Chitayat; Christelle Thauvin; Nicole Laurent; Julian R Sampson; Jonathan A Bernstein; Alix Clemenson; Fabienne Prieur; Laurent Daniel; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
AUTHORS: Olivier Gribouval; Vincent Moriniere; Audrey Pawtowski; Christelle Arrondel; Satu Leena Sallinen; Carola Saloranta; Carol Clericuzio; Geraldine Viot; Julia Tantau; Sophie Blesson; Sylvie Cloarec; Marie Christine Machet; David Chitayat; Christelle Thauvin; Nicole Laurent; Julian R Sampson; Jonathan A Bernstein; Alix Clemenson; Fabienne Prieur; Laurent Daniel; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
