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Page 1
Descriptive epidemiology of Cornelia de Lange syndrome in Europe.
Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H; EUROCAT Working Group. Barisic I, et al. Among authors: dolk h. Am J Med Genet A. 2008 Jan 1;146A(1):51-9. doi: 10.1002/ajmg.a.32016. Am J Med Genet A. 2008. PMID: 18074387
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Doray B, Khoshnood B, Klungsoyr K, McDonnell B, Pierini A, Rankin J, Rissmann A, Rounding C, Queisser-Luft A, Scarano G, Tucker D. Barisic I, et al. Among authors: dolk h. Eur J Hum Genet. 2014 Aug;22(8):1026-33. doi: 10.1038/ejhg.2013.287. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398798 Free PMC article.
Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.
Calzolari E, Barisic I, Loane M, Morris J, Wellesley D, Dolk H, Addor MC, Arriola L, Bianchi F, Neville AJ, Budd JL, Klungsoyr K, Khoshnood B, McDonnell B, Nelen V, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, de Walle H, Garne E. Calzolari E, et al. Among authors: dolk h. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):270-6. doi: 10.1002/bdra.23240. Epub 2014 Apr 11. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24723551
Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.
Khoshnood B, Greenlees R, Loane M, Dolk H; EUROCAT Project Management Committee; EUROCAT Working Group. Khoshnood B, et al. Among authors: dolk h. Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1(Suppl 1):S16-22. doi: 10.1002/bdra.20776. Epub 2011 Mar 4. Birth Defects Res A Clin Mol Teratol. 2011. PMID: 21381186 Free PMC article. Review.
European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.
Taruscio D, Arriola L, Baldi F, Barisic I, Bermejo-Sánchez E, Bianchi F, Calzolari E, Carbone P, Curran R, Garne E, Gatt M, Latos-Bieleńska A, Khoshnood B, Irgens L, Mantovani A, Martínez-Frías ML, Neville A, Rißmann A, Ruggeri S, Wellesley D, Dolk H. Taruscio D, et al. Among authors: dolk h. Public Health Genomics. 2014;17(2):115-23. doi: 10.1159/000360602. Epub 2014 Apr 3. Public Health Genomics. 2014. PMID: 24714026
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Among authors: dolk h. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.
Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Rounding C, Sipek A, Stoianova S, Tucker D, de Walle H, Yevtushok L, Loane M, Dolk H. Morris JK, et al. Among authors: dolk h. Am J Med Genet A. 2014 Dec;164A(12):2979-86. doi: 10.1002/ajmg.a.36780. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257471
240 results