Publications (876)
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EUROCAT Special Report: Congenital Anomalies are a Major Group of Mainly Rare Diseases
EUROCAT Special Report: Congenital Anomalies are a Major Group of Mainly Rare Diseases
EUROCAT
EUROCAT Central Registry, University of Ulster, 2012
Subjects: Surveillance Methodology -
EUROCAT Statistical Monitoring Executive Summary 2009
EUROCAT Statistical Monitoring Executive Summary 2009
EUROCAT
EUROCAT Central Registry, University of Ulster, 2012
Subjects: Clusters and Trends, Surveillance Methodology -
EUROCAT Statistical Monitoring Report 2009
EUROCAT Statistical Monitoring Report 2009
EUROCAT
EUROCAT Central Registry, University of Ulster, 2012
Subjects: Clusters and Trends, Surveillance Methodology -
Global, Regional and National Causes of Child Mortality
Global, Regional and National Causes of Child Mortality
Modell B, Berry RJ, Boyle CA, Christianson A, Darlison M, Dolk H, Howson CP, Mastroiacovo P, Mossey P, Rankin J
The Lancet, 2012 , 380: (3) 1556
Subjects: Environmental Pollution, Genetics and Syndromes, Prevalence & Perinatal Mortality, Prevention & Risk Factors, Survival & Neuro Development Outcomes -
Hirschsprung's disease in the North of England: prevalence, associated anomalies and survival
Hirschsprung's disease in the North of England: prevalence, associated anomalies and survival
Best KE, Glinianaia SV, Bythell M, Rankin J
Birth Defects Research (Part A), 2012 , 94: 477 - 480
Subjects: Prevalence & Perinatal Mortality
Anomalies: Digestive System Anomalies -
How do we define congenital heart defects for scientific studies?
How do we define congenital heart defects for scientific studies?
Garne E, Olsen MS, Johnsen SP, Hjortdal V, Andersen HO, Nissen H, Sondergaard L, Videbaek J, Danish Register of Congenital Heart Disease,
Congenital Heart Diseases, 2012 , 7: (1) 46 - 49
Subjects: Prevalence & Perinatal Mortality
Anomalies: Congenital Heart Anomalies -
Joint Action EUROCAT 2011-2013 funded by the Public Health Programme 2008-2013 of the European Commission
Joint Action EUROCAT 2011-2013 funded by the Public Health Programme 2008-2013 of the European Commission
Barisic I, Loane M, Curran R, Garne E, Vrijheid M, Taruscio D, Morris J, Bakker M, Irgens L, Calzolari E, Khoshnood B, Wellesley D, Dolk H
Croatian Journal of Public Health, 2012 , 8: (31) 25 - 32
Subjects: EUROCAT Overview, Surveillance Methodology -
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor M-C, et al
American Journal of Human Genetics, 2012 , 90: 494 - 501
Subjects: Genetics and Syndromes
Anomalies: Chromosomal (other than Down Syndrome), Limb Anomalies -
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
Jaurejuiberry G, de la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres M-L, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Sparta G, Bartholdi D, Rauch A, Addor M-C, et al
Nephron Physiology, 2012 , 122: 1 - 6
Subjects: Genetics and Syndromes, Prevalence & Perinatal Mortality
Anomalies: Digestive System Anomalies, Urinary Anomalies -
Newer anticonvulsants: Lamotrigine
Newer anticonvulsants: Lamotrigine
Dolk H, de Jong-van den Berg L, Loane M, Wang, H, Morris J
Birth Defects Research Part A Clinical and Molecular Teratology, 2012 , 94: 959
Subjects: Medication During Pregnancy, Prevalence & Perinatal Mortality, Prevention & Risk Factors