134 results on '"Siu, Victoria"'
Search Results
2. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
3. Characterization of a novel heterozygous variant in the histidyl‐tRNA synthetase gene associated with Charcot–Marie–Tooth disease type 2W.
4. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
5. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
6. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
7. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
8. Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario
9. Vitamin D, Folate, Vitamin B12, and Iron Status in Pregnant/Postpartum Old Order Anabaptist Women in Southwestern Ontario.
10. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
11. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
12. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
13. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
14. A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency—An Ontario Single-Centre Experience Spanning 2013–2023.
15. Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders
16. Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report
17. Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.
18. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
19. Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
20. Genesis and genetics of a miracle.
21. Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple.
22. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
23. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
24. Congenital Myotonic Dystrophy: Canadian Population-Based Surveillance Study
25. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
26. Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
27. Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model.
28. Circles.
29. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
30. Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population
31. Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
32. A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems
33. Unusual 8p inverted duplication deletion with telomere capture from 8q
34. Chromosomal Jumping from the DXS165 Locus Allows Molecular Characterization of Four Microdeletions and a de novo Chromosome X/13 Translocation Associated with Choroideremia
35. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
36. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
37. Evidence-based work up and management of non-specific neck pain in the emergency department.
38. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
39. Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype
40. Brief Report: A Case of Autism with Interstitial Deletion of Chromosome 13
41. Moyamoya Syndrome in an Infant with Aicardi–Goutières and Williams Syndromes: A Case Report.
42. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
43. A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America
44. Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome
45. Interference in an unconjugated estriol assay causing a false negative integrated prenatal screening report
46. False-positive prenatal diagnosis of trisomy 18 by interphase FISH: Hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9
47. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5
48. Choroideremia associated with an X-autosomal translocation
49. Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.
50. Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.