Search

Your search keyword '"Kleefstra, Tjitske"' showing total 758 results

Search Constraints

Start Over You searched for: Author "Kleefstra, Tjitske" Remove constraint Author: "Kleefstra, Tjitske"
758 results on '"Kleefstra, Tjitske"'

Search Results

1. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

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

4. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

5. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

6. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

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

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

10. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

11. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

12. GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome

13. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

14. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

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

16. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

17. Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like Syndrome

18. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

20. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

21. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

22. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

23. Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.

24. Clinical delineation of SETBP1 haploinsufficiency disorder

25. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

26. EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME

27. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link

29. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

30. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

31. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

32. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

33. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

34. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

35. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

36. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

37. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

38. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

39. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

40. Variants in CUL4B are Associated with Cerebral Malformations

41. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

43. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.

44. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

45. POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

46. PO-04-124 ARRHYTHMIAS INCLUDING ATRIAL FIBRILLATION IN KLEEFSTRA SYNDROME: A POSSIBLE EPIGENETIC LINK

47. Missense variant contribution to USP9X-female syndrome

48. Germline AGO2 mutations impair RNA interference and human neurological development

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

Catalog

Books, media, physical & digital resources