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TITLE: Epidemiology of achondroplasia: A population-based study in Europe  Full Text
AUTHORS: Alessio Coi; Michele Santoro; Ester Garne; Anna Pierini; Marie Claude Addor; Jean Luc Alessandri; Jorieke E H Bergman; Fabrizio Bianchi; Ljubica Boban; Paula Braz; Clara Cavero Carbonell; Miriam Gatt; Martin Haeusler; Kari Klungsoyr; Jennifer J Kurinczuk; Monica Lanzoni; Nathalie Lelong; Karen Luyt; Olatz Mokoroa; Carmel Mullaney; Vera Nelen; Amanda J Neville; Mary T O'Mahony; Isabelle Perthus; Judith Rankin; Anke Rissmann; Florence Rouget; Bruno Schaub; David Tucker; Diana Wellesley; Katarzyna Wisniewska; Nataliia Zymak Zakutnia; Ingeborg Barisic; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 179, ISSUE: 9
INDEXED IN: Scopus WOS
12
TITLE: Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study
AUTHORS: Michele Santoro; Alessio Coi; Ingeborg Barisic; Ester Garne; Marie Claude Addor; Jorieke E H Bergman; Fabrizio Bianchi; Ljubica Boban; Paula Braz; Clara Cavero Carbonell; Miriam Gatt; Martin Haeusler; Agnieszka Kinsner Ovaskainen; Kari Klungsoyr; Jennifer J Kurinczuk; Nathalie Lelong; Karen Luyt; Anna Materna Kiryluk; Olatz Mokoroa; Carmel Mullaney; Vera Nelen; Amanda Julie Neville; Mary T O'Mahony; Isabelle Perthus; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Florence Rouget; Bruno Schaub; David Tucker; Diana Wellesley; Lyubov Yevtushok; Anna Pierini; ...More
PUBLISHED: 2019, SOURCE: NEUROEPIDEMIOLOGY, VOLUME: 53, ISSUE: 3-4
INDEXED IN: Scopus WOS
13
TITLE: Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data
AUTHORS: Breidge Boyle; Marie Claude Addor; Larraitz Arriola; Ingeborg Barisic; Fabrizio Bianchi; Melinda Csaky Szunyogh; Hermien E K de Walle; Carlos Matias Dias; Elizabeth Draper; Miriam Gatt; Ester Garne; Martin Haeusler; Karin Kallen; Anna Latos Bielenska; Bob McDonnell; Carmel Mullaney; Vera Nelen; Amanda J Neville; Mary O'Mahony; Annette Queisser Wahrendorf; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Annukka Ritvanen; Catherine Rounding; David Tucker; Christine Verellen Dumoulin; Diana Wellesley; Ben Wreyford; Natalia Zymak Zakutnia; Helen Dolk; ...More
PUBLISHED: 2018, SOURCE: ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, VOLUME: 103, ISSUE: 1
INDEXED IN: WOS
14
TITLE: Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study
AUTHORS: Ester Garne; Anke Rissmann; Marie Claude Addor; Ingeborg Barisic; Jorieke Bergman; Paula Braz; Clara Cavero Carbonell; Elizabeth S Draper; Miriam Gatt; Martin Haeusler; Kari Klungsoyr; Jennifer J Kurinczuk; Nathalie Lelong; Karen Luyt; Catherine Lynch; Mary T O'Mahony; Olatz Mokoroa; Vera Nelen; Amanda J Neville; Anna Pierini; Hanitra Randrianaivo; Judith Rankin; Florence Rouget; Bruno Schaub; David Tucker; Christine Verellen Dumoulin; Diana Wellesley; Awi Wiesel; Nataliia Zymak Zakutnia; Monica Lanzoni; Joan K Morris; ...More
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 61, ISSUE: 9
INDEXED IN: WOS
15
TITLE: Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
AUTHORS: 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; ...More
PUBLISHED: 2015, SOURCE: ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, VOLUME: 100, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
16
TITLE: Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
AUTHORS: Ingeborg Barisic; Ljubica Boban; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie Claude Addor; Jorieke E H Bergman; Paula Braz; Elizabeth S Draper; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Anna Pierini; Annette Queisser Luft; Judith Rankin; Anke Rissmann; Christine Verellen Dumoulin;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
17
TITLE: Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011. Anomalies associated with trisomies 18 or 13  Full Text
AUTHORS: Anna Springett; Diana Wellesley; Ruth Greenlees; Maria Loane; Marie Claude Addor; Larraitz Arriola; Jorieke Bergman; Clara Cavero Carbonell; Melinda Csaky Szunyogh; Elizabeth S Draper; Ester Garne; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Catherine Lynch; Carlos Matias Dias; Robert McDonnell; Vera Nelen; Mary O'Mahony; Anna Pierini; Annette Queisser Luft; Judith Rankin; Anke Rissmann; Catherine Rounding; Sylvia Stoianova; David Tuckerz; Natalya Zymak Zakutnia; Joan K Morris; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
18
TITLE: Hirschsprung's Disease Prevalence in Europe: A Register Based Study. Hirschsprung's Disease in Europe  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2014, SOURCE: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, VOLUME: 100, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
19
TITLE: Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study  Full Text
AUTHORS: Joan K Morris; Ester Garne; Diana Wellesley; Marie Claude Addor; Larraitz Arriola; Ingeborg Barisic; Judit Beres; Fabrizio Bianchi; Judith Budd; Carlos Matias Dias; Miriam Gatt; Kari Klungsoyr; Babak Khoshnood; Anna Latos Bielenska; Carmel Mullaney; Vera Nelen; Amanda J Neville; Mary O'Mahony; Annette Queisser Luft; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Cath Rounding; Antonin Sipek; Sylvia Stoianova; David Tucker; Hermien de Walle; Lyubov Yevtushok; Maria Loane; Helen Dolk; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164A, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
20
TITLE: Holt Oram syndrome: a registry-based study in Europe  Full Text
AUTHORS: Ingeborg Barisic; Ljubica Boban; Ruth Greenlees; Ester Garne; Diana Wellesley; Elisa Calzolari; Marie Claude Addor; Larraitz Arriola; Jorieke E H Bergman; Paula Braz; Judith L S Budd; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Bob McDonnell; Vera Nelen; Anna Pierini; Annette Queisser Wahrendorf; Judith Rankin; Anke Rissmann; Catherine Rounding; David Tucker; Christine Verellen Dumoulin; Helen Dolk; ...More
PUBLISHED: 2014, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 9, ISSUE: 1
INDEXED IN: WOS CrossRef
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