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32 results on '"van der Sluijs, Pleuntje J."'

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1. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

3. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

4. Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

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

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

7. Putting genome-wide sequencing in neonates into perspective

8. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

9. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

10. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

11. PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

12. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

13. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

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

15. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

16. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

17. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

18. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

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

20. A case series of familial ARID1B variants illustrating variable expression and suggestions to update the ACMG criteria

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

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

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

24. Correction:The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

25. Microduplications of ARID1Aand ARID1Bcause a novel clinical and epigenetic distinct BAFopathy

26. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

27. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

28. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

29. The ARID1B spectrum in 143 patients

30. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

31. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

32. ARID1B -Related Disorder

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