228 results on '"Buckley, Michael F"'
Search Results
2. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
3. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
4. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
5. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
6. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
7. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
8. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
9. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
10. Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
11. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
12. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
13. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
14. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
15. Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant
16. Biallelic variants inTUBGCP6result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
17. Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine
18. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
19. The role of perinatal phenotyping in confirming the molecular diagnosis of congenital dyseryhtropoietic anaemia type I (CDA1) – a case report
20. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
21. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
22. A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss
23. Expression and Regulation of Cyclin Genes in Breast Cancer Cells
24. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
25. Cyclin D1 Induction in Breast Cancer Cells Shortens G 1 and is Sufficient for Cells Arrested in G 1 to Complete the Cell Cycle
26. Exomes in prenatal testing: an introduction to the pregen study
27. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
28. Quantitative trait loci for steady-state platelet count in mice
29. Chromosome 2q24.2 is lost in sporadic but not in BRCA1-associated ovarian carcinomas
30. Next-generation genetic testing for retinitis pigmentosa
31. An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?
32. Dominant-negative mutations inCBX1cause a neurodevelopmental disorder
33. CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
34. Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment
35. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
36. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation
37. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
38. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
39. De Novo ZMYND8variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
40. The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data
41. Expanding the Spectrum of BAF-Related Disorders : De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
42. Indications and outcomes of rapid turn around time whole exome sequencing studies
43. Front Cover, Volume 40, Issue 10
44. Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing
45. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans
46. Vascular endothelial growth factor gene therapy in ischaemic rat skin flaps
47. Plasma cell membrane glycoprotein genePca-1 (alkaline phosphodiesterase I) is linked to the proto-oncogeneMyb on mouse chromosome 10
48. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
49. A review of therapeutic angiogenesis and consideration of its potential applications to plastic and reconstructive surgery
50. Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection
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