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TÍTULO: Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa  Full Text
AUTORES: Bert Callewaert; Chi Ting Su; Tim Van Damme; Philip Vlummens; Fransiska Malfait; Olivier Vanakker; Bianca Schulz; Meghan Mac Neal; Elaine C Davis; Joseph G H Lee; Aicha Salhi; Sheila Unger; Ketil Heimdal; Salome De Almeida; Uwe Kornak; Harald Gaspar; Jean Luc Bresson; Katrina Prescott; Maria E Gosendi; Sahar Mansour; Gerald E Pierard; Suneeta Madan Khetarpal; Frank C Sciurba; Sofie Symoens; Paul J Coucke; Lionel Van Maldergem; Zsolt Urban; Anne De Paepe; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis  Full Text
AUTORES: 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; Annie Levy Mozziconacci; Katherine Lachlan; Jean Luc Alessandri; Francois Cartault; Jean Pierre Riviere; Nicole Picard; Clarisse Baumann; Anne Lise Delezoide; Maria B Belar Ortega; Nicolas Chassaing; Philippe Labrune; Sui Yu; Helen Firth; Diana Wellesley; Martin Bitzan; Ahmed Alfares; Nancy Braverman; Lotte Krogh; John Tolmie; Harald Gaspar; Berenice Doray; Silvia Majore; Dominique Bonneau; Stephane Triau; Chantal Loirat; Albert David; Deborah Bartholdi; Amir Peleg; Damien Brackman; Rosario Stone; Ralph DeBerardinis; Pierre Corvol; Annie Michaud; Corinne Antignac; Marie Claire Gubler; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MUTATION, VOLUME: 33, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef