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205 results on '"Verellen‐Dumoulin, Christine"'

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1. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

2. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

4. Long term trends in prevalence of neural tube defects in Europe : population based study

5. The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe : An Ecological Time Series Study

6. Amniotic band syndrome and limb body wall complex in Europe 1980–2019

7. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

8. Clinical and genetic characteristics of late-onset Huntington's disease

9. Prevention of Neural Tube Defects in Europe: A Public Health Failure

11. The nuclear factor [kappa]B-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

13. Fraser Syndrome: Epidemiological Study in a European Population

15. Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique

17. Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators

18. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

20. Recent Decrease in the Prevalence of Congenital Heart Defects in Europe

21. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

22. A Cluster of Mutations in the UMOD Gene Causes Familial Juvenile Hyperuricemic Nephropathy with Abnormal Expression of Uromodulin

23. Cognitive decline in Huntington's disease expansion gene carriers

29. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

30. Congenital clubfoot in Europe: A population-based study

33. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum

34. Trends in congenital anomalies in Europe from 1980 to 2012

35. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

36. Use of hierarchical models to analyze European trends in congenital anomaly prevalence

37. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

38. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

40. Lamotrigine use in pregnancy and risk of orofacial cleft, an update of eurocat lamotrigine study

41. Prevalence of microcephaly in Europe: population based study

42. Use of hierarchical models to analyze European trends in congenital anomaly prevalence

43. Holt Oram syndrome: a registry-based study in Europe

45. Possible Mechanims Responsible for great Inter and Intra Familial Phenotypic Heterogeneity in FSHD

46. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

47. Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population‐based registry study

48. Seasonality of congenital anomalies in Europe

49. HUWE1variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

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