Silvia Majore


AuthID: R-00F-JBP

Publications Awaiting Confirmation

1
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; 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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
2
TITLE: Schimke immunoosseous dysplasia: defining skeletal features  Full Text
AUTHORS: Kshamta B Hunter; Thomas Luecke; Juergen Spranger; Sarah F Smithson; Harika Alpay; Jean Luc Andre; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fruend; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; Christy Mayfield; Bertram F Pontz; Cristina Rusu; Jorge M Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F Boerkoel; ...More
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
3
TITLE: Schimke immunoosseous dysplasia: Suggestions of genetic diversity  Full Text
AUTHORS: Marietta M Clewing; Helen Fryssira; David Goodman; Sarah F Smithson; Emily A Sloan; Shu Lou; Yan Huang; Kunho Chow; Thomas Luecke; Harika Alpay; Jean Luc Andre; Yumi Asakura; Nathalie Biebuyck Gouge; Radovan Bogdanovic; Dominique Bonneau; Caterina Cancrini; Pierre Cochat; Sandra Cockfield; Laure Collard; Isabel Cordeiro; Valerie Cormier Daire; Karlien Cransberg; Karel Cutka; Georges Deschenes; Jochen H H Ehrich; Stefan Frund; Helen Georgaki; Encarna Guillen Navarro; Barbara Hinkelmann; Maria Kanariou; Belde Kasap; Sara Sebnem Kilic; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; David Milford; Denis Morin; Nihal Ozdemir; Bertram F Pontz; Willem Proesmans; Stavroula Psoni; Herbert Reichenbach; Silke Reif; Cristina Rusu; Jorge M Saraiva; Onur Sakallioglu; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Graham Smith; Flora Sotsiou; Natasa Stajic; Anja Stein; Asbjorg Stray Pedersen; Doris Taha; Sophie Taque; Jane Tizard; Michel Tsimaratos; Newton A C S Wong; Cornelius F Boerkoel; ...More
PUBLISHED: 2007, SOURCE: HUMAN MUTATION, VOLUME: 28, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef

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