ProfileOfResearchers

TÃTULO: Use of Highly Individualized Complement Blockade Has Revolutionized Clinical Outcomes after Kidney Transplantation and Renal Epidemiology of Atypical Hemolytic Uremic Syndrome
AUTORES: Julien Zuber; Marie Frimat; Sophie Caillard; Nassim Kamar; Philippe Gatault; Florent Petitprez; Lionel Couzi; Noemie Jourdeh Ciche; Valerie Chatelet; Raphael Gaisne; Dominique Bertrand; Jamal Bamoulid; Magali Louis; Rebecca Sberro Soussan; David Navarro; Pierre Francois Westeel; Luc Frimat; Charlotte Colosio; Antoine Thierry; Joseph Rivalan; Laetitia Albano; Nadia Arzouk; Emilie Cornec Le Gall; Guillaume Claisse; Michelle Elias; Khalil El Karoui; Sophie Chauvet; Jean Philippe Coindre; Jean Philippe Rerolle; Leila Tricot; Johnny Sayegh; Cyril Garrouste; Christophe Charasse; Yahsou Delmas; Ziad Massy; Maryvonne Hourmant; Aude Servais; Chantal Loirat; Fadi Fakhouri; Claire Pouteil Noble; Marie Noelle Peraldi; Christophe Legendre; Eric Rondeau; Moglie Le Quintrec; Veronique Fremeaux Bacchi; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 30, NÚMERO: 12

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TÃTULO: 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

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TÃTULO: Schimke immunoosseous dysplasia: defining skeletal features Full Text
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2010, FONTE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 169, NÚMERO: 7

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TÃTULO: Schimke immunoosseous dysplasia: Suggestions of genetic diversity Full Text
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2007, FONTE: HUMAN MUTATION, VOLUME: 28, NÚMERO: 3

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TÃTULO: Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia Full Text
AUTORES: Boerkoel, CF; Takashima, H; John, J; Yan, J; Stankiewicz, P; Rosenbarker, L; Andre, JL; Bogdanovic, R; Burguet, A; Cockfield, S; Cordeiro, I; Frund, S; Illies, F; Joseph, M; Kaitila, I; Lama, G; Loirat, C; McLeod, DR; Milford, DV; Petty, EM; Rodrigo, F; Saraiva, JM; Schmidt, B; Smith, GC; Spranger, J; Stein, A; Thiele, H; Tizard, J; Weksberg, R; Lupski, JR; Stockton, DW; ...Mais
PUBLICAÇÃO: 2002, FONTE: NATURE GENETICS, VOLUME: 30, NÚMERO: 2

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