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365 results on '"Rooij, I.A.L.M. van"'

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1. The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics

2. A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.

3. Maternal risk factors for posterior urethral valves.

4. Environmental and parental risk factors for congenital solitary functioning kidney - a case-control study.

5. A Quality Assessment of the ARM-Net Registry Design and Data Collection.

6. Rectal atresia and rectal stenosis: the ARM-Net Consortium experience

7. Health-related quality of life in children with congenital vascular malformations.

8. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

9. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

11. Genome-wide association study in patients with posterior urethral valves

12. Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences-The ARM-Net Consortium Consensus

13. A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney

14. Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study

15. Genetic Counseling and Diagnostics in Anorectal Malformation

16. The Role of De Novo Variants in Formation of Human Anorectal Malformations

18. Research in Action: Students' Perspectives on the Integration of Research Activities in Undergraduate Biomedical Curricula

19. CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies

20. Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey

21. The etiology of the VACTERL association: maternal and genetic risk factors

22. SLC20A1Is Involved in Urinary Tract and Urorectal Development

23. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

24. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

25. Surgical Complications in Children with CDH: A Multivariate Analysis

26. Maternal risk associated with the VACTERL association: A case-control study

28. Development of a prediction model for postoperative complications after primary hypospadias correction

29. Maternal risk factors for the VACTERL association: A EUROCAT case-control study

30. Uncontrolled maternal chronic respiratory diseases in pregnancy: A new potential risk factor suggested to be associated with anorectal malformations in offspring

31. Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

32. What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members' opinion

33. Deletions and loss-of-function variants in TP63 associated with orofacial clefting

34. Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

36. Congenital diaphragmatic hernia is associated with nonscrotal testes

37. Preoperative Illnesses in Children Do Not Increase the Risk of Complications After Hypospadias Repair

38. Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

41. Level of agreement on postoperative complications after one-stage hypospadias correction comparing medical records and parent reports

42. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

44. Complications after Hypospadias Correction: Prognostic Factors and Impact on Final Clinical Outcome

45. A Stepwise Procedure to Define a Data Collection Framework for a Clinical Biobank

46. No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations

47. Patient Satisfaction with Surgical Outcome after Hypospadias Correction

48. Bilateral congenital diaphragmatic hernia: prognostic evaluation of a large international cohort

50. Previous miscarriages and GLI2 are associated with anorectal malformations in offspring

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