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1. Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure

2. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

3. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

4. Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

6. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

7. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

8. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

9. An Introductory Guide to Artificial Intelligence in Interventional Radiology: Part 2: Implementation Considerations and Harms.

10. An Introductory Guide to Artificial Intelligence in Interventional Radiology: Part 1 Foundational Knowledge.

11. A clinical scoring system for congenital contractural arachnodactyly

13. Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

15. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

16. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

19. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

20. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

22. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

24. Applied Survey Sampling

25. Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

27. In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disruptingFOXP2

28. The genetic basis of DOORS syndrome: an exome-sequencing study

29. The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

32. A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

33. Prevalence and architecture of de novo mutations in developmental disorders

34. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

35. In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

36. TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

37. Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

47. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

48. Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome

50. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

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