36 results on '"Kirk, Edwin"'
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2. Toward Accessible Reproductive Genetic Carrier Screening: Considerations for Implementation at Scale
3. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
4. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
5. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
6. The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
7. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
8. A new era of genetic testing in congenital heart disease: A review
9. Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes
10. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
11. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
12. Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency
13. Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
14. Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
15. A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
16. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
17. Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease
18. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
19. Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
20. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
21. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
22. Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine
23. Parents’ perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance
24. Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al
25. Cardiac Disease in Methylmalonic Acidemia
26. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
27. Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy
28. Response to Li and Sun
29. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
30. A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy
31. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
32. Response to Suthers and Mina
33. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
34. Chapter 9.1 - NK-2 Class Homeodomain Proteins: Conserved Regulators of Cardiogenesis
35. Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition
36. List of Contributors
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