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1. Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

2. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

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3. O'Donnell-Luria-Rodan syndrome

4. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

5. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

6. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

7. RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

8. ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

9. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

10. Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

11. Expanding Phenotype of - Related Disorders: A Case Series

12. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

13. Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

14. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

15. SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

16. Psychological well-being in patients with aneurysms-osteoarthritis syndrome

17. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

18. DLG4-related synaptopathy: a new rare brain disorder

19. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

20. Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

21. Blood biomarkers in patients with bicuspid aortic valve disease

22. Heritable Thoracic Aortic Diseases: Syndromal and Isolated (F)TAAD

23. Abnormal aortic wall properties in women with Turner syndrome

24. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

25. Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia

26. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

27. Cardiovascular malformations caused by NOTCH1 mutations do not keep left

28. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

29. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

30. Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome

31. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

32. Variants in DOCK3 cause developmental delay and hypotonia

33. Aortic Dimensions and Clinical Outcome in Patients With SMAD3 Mutations

34. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

35. Pregnancy in Women With SMAD3 Mutation

36. Heritable Thoracic Aortic Disorders

37. Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

38. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

39. First locus for primary pulmonary vein stenosis maps to chromosome 2q

40. Abstract 18895: A Novel Gene Involved in Severe Neonatal Cardiomyopathy

41. Mutations in a TGF-<tex>\beta$</tex> ligand, TGFB3, cause syndromic aortic aneurysms and dissections

42. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

43. Familial gigantism caused by anNSD1 mutation

44. Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome

45. Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

46. NPHP4 variants are associated with pleiotropic heart malformations

47. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome

48. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

49. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

50. Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction