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123 results on '"Elting, Mariet W."'

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1. Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta

2. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

4. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

5. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

6. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

7. From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

8. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

10. MissenseMED12variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

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

12. Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

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

14. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental 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. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

21. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

22. Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan:Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

23. PPIB mutations cause severe osteogenesis imperfecta

24. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

25. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

28. Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

29. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

30. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

32. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

35. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

36. KIF1Avariants are a frequent cause of autosomal dominant hereditary spastic paraplegia

37. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

39. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

40. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

41. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

44. Endocrinology. Women with polycystic ovary syndrome gain regular menstrual cycles when ageing.

45. Women with polycystic ovary syndrome gain regular menstrual cycles when ageing

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

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

48. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

49. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A / KAT6B variants.

50. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

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