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2. Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

4. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

7. Correction: Putting genome-wide sequencing in neonates into perspective

8. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

9. Putting genome-wide sequencing in neonates into perspective

10. Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

11. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

12. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

13. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

14. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

15. Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

17. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

18. Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

19. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

21. Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study

22. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

23. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

24. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)

25. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y):Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)

26. Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

29. A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

30. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

31. The end of the laboratory developed test as we know it?: Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications

32. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

34. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

36. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

37. Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

38. An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

39. Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

41. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

42. A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

43. Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology

46. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

47. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

49. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

50. Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus

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