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TÍTULO: A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
AUTORES: Rajae El Malti; Hui Liu; Berenice Doray; Christel Thauvin; Alice Maltret; Claire Dauphin; Miguel Gonacalves Rocha; Michel Teboul; Patricia Blanchet; Joelle Roume; Celine Gronier; Corinne Ducreux; Magali Veyrier; Francois Marcon; Philippe Acar; Jean Rene Lusson; Marilyne Levy; Constance Beyler; Jacqueline Vigneron; Marie Pierre Cordier Alex; Francois Heitz; Damien Sanlaville; Damien Bonnet; Patrice Bouvagnet; ...Mais
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
AUTORES: Mark R McGivern; Kate E Best; Judith Rankin; Diana Wellesley; Ruth Greenlees; Marie Claude Addor; Larraitz Arriola; Hermien de Walle; Ingeborg Barisic; Judit Beres; Fabrizio Bianchi; Elisa Calzolari; Berenice Doray; Elizabeth S Draper; Ester Garne; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Anna Latos Bielenska; Mary O'Mahony; Paula Braz; Bob McDonnell; Carmel Mullaney; Vera Nelen; Anette Queisser Luft; Hanitra Randrianaivo; Anke Rissmann; Catherine Rounding; Antonin Sipek; Rosie Thompson; David Tucker; Wladimir Wertelecki; Carmen Martos; ...Mais
PUBLICAÇÃO: 2015, FONTE: ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, VOLUME: 100, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Hirschsprung's Disease Prevalence in Europe: A Register Based Study. Hirschsprung's Disease in Europe  Full Text
AUTORES: Kate E Best; Marie Claude Addor; Larraitz Arriola; Eszter Balku; Ingeborg Barisic; Fabrizio Bianchi; Elisa Calzolari; Rhonda Curran; Berenice Doray; Elizabeth Draper; Ester Garne; Miriam Gatt; Martin Haeusler; Jorieke Bergman; Babak Khoshnood; Kari Klungsoyr; Carmen Martos; Anna Materna Kiryluk; Carlos Matias Dias; Bob McDonnell; Carmel Mullaney; Vera Nelen; Mary O'Mahony; Annette Queisser Luft; Hanitra Randrianaivo; Anke Rissmann; Catherine Rounding; Antonin Sipek; Rosie Thompson; David Tucker; Diana Wellesley; Natalya Zymak Zakutnia; Judith Rankin; ...Mais
PUBLICAÇÃO: 2014, FONTE: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, VOLUME: 100, NÚMERO: 9
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
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TÍTULO: Paper 6: EUROCAT Member Registries: Organization and Activities  Full Text
AUTORES: Ruth Greenlees; Amanda Neville; Marie Claude Addor; Emmanuelle Amar; Larraitz Arriola; Marian Bakker; Ingeborg Barisic; Patricia A Boyd; Elisa Calzolari; Berenice Doray; Elizabeth Draper; Stein Emil Vollset; Ester Garne; Miriam Gatt; Martin Haeusler; Karin Kallen; Babak Khoshnood; Anna Latos Bielenska; Maria Luisa Martinez Frias; Anna Materna Kiryluk; Carlos Matias Dias; Bob McDonnell; Carmel Mullaney; Vera Nelen; Mary O'Mahony; Anna Pierini; Annette Queisser Luft; Hanitra Randrianaivo Ranjatoelina; Judith Rankin; Anke Rissmann; Annukka Ritvanen; Joaquin Salvador; Antonin Sipek; David Tucker; Christine Verellen Dumoulin; Diana Wellesley; Wladimir Wertelecki; ...Mais
PUBLICAÇÃO: 2011, FONTE: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, VOLUME: 91, NÚMERO: SUPPL. 1
INDEXADO EM: Scopus WOS CrossRef