319 results on '"Alders, Marielle"'
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2. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
3. Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
4. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
5. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
6. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
7. DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
8. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
9. Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
10. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
11. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
12. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
13. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
14. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
15. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
16. Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1
17. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
18. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
19. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
20. 5q35 duplication syndrome:Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression
21. Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
22. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
23. Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1
24. Methylation signatures in clinically variable syndromic disorders: a familial DNMT3Avariant in two adults with Tatton-Brown–Rahman syndrome
25. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression
26. Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9
27. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
28. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
29. De novo variants in the PABP domain of PABPC1 lead to developmental delay
30. Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood
31. A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence
32. Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients
33. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey
34. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
35. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
36. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
37. Variants in KAT6A and pituitary anomalies
38. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
39. Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel
40. Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
41. 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)
42. 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)
43. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)
44. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
45. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
46. Variable Clinical expressivity of STAT3 Mutation in Hyperimmunoglobulin E Syndrome: Genetic and Clinical Studies of Six Patients
47. Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
48. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
49. Clinical relevance of Wilms tumor 1 gene mutations in childhood acute myeloid leukemia
50. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
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