466 results on '"de Leeuw, Nicole"'
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2. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
3. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
4. Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
5. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
6. Recommendations for whole genome sequencing in diagnostics for rare diseases
7. Phenotype of COL3A1/COL5A2 deletion patients
8. Stepwise ABC system for classification of any type of genetic variant
9. Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
10. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
11. De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
12. Hoe herkent u het zeldzame Phelan-McDermidsyndroom?
13. A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome
14. Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism
15. Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
16. 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
17. Accurate detection of clinically relevant uniparental disomy from exome sequencing data
18. Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
19. PRRT2-related phenotypes in patients with a 16p11.2 deletion
20. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.
21. Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia
22. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
23. Duplications of SLC1A3: Associated with ADHD and autism
24. Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia
25. De novo heterozygous missense variants in CELSR1as cause of fetal pleural effusions and progressive fetal hydrops
26. A NOVEL DISTAL 22Q11.21 MICRODUPLICATION IN A 43-YEAR-OLD MALE PATIENT WITH MILD INTELLECTUAL DISABILITY, SOCIAL COGNITIVE DYSFUNCTIONS, AND ANXIETY.
27. Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
28. All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience
29. Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review
30. PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
31. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
32. Biallelic frameshift variant in theTBC1D2Bgene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration
33. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
34. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
35. Copy number variants from 4,800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
36. Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
37. A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy
38. Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
39. Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders
40. LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
41. Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
42. Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))
43. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
44. LRFN5 locus structure is influenced by the individual’s sex and associated with autism
45. A 12q24.31 interstitial deletion in an adult male with MODY3: Neuropsychiatric and neuropsychological characteristics
46. Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects
47. The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
48. Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders
49. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
50. No Evidence for Persistent Enterovirus Infection in Patients with End-Stage Idiopathic Dilated Cardiomyopathy
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