277 results on '"Malcolm, Sue"'
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2. WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations
3. Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
4. Faculty Opinions recommendation of Long-range enhancers regulating Myc expression are required for normal facial morphogenesis.
5. Faculty Opinions recommendation of Individualized medicine from prewomb to tomb.
6. Faculty Opinions recommendation of Obesity-associated variants within FTO form long-range functional connections with IRX3.
7. Faculty Opinions recommendation of The genomic landscape of Neanderthal ancestry in present-day humans.
8. Faculty Opinions recommendation of A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.
9. Faculty Opinions recommendation of Somatic point mutations occurring early in development: a monozygotic twin study.
10. Faculty Opinions recommendation of Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
11. Faculty Opinions recommendation of Mutations in DSTYK and dominant urinary tract malformations.
12. Faculty Opinions recommendation of Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
13. Faculty Opinions recommendation of XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
14. Faculty Opinions recommendation of Central precocious puberty caused by mutations in the imprinted gene MKRN3.
15. Faculty Opinions recommendation of Translating dosage compensation to trisomy 21.
16. Experience of targeted Usher exome sequencing as a clinical test
17. Faculty Opinions recommendation of High rate of mosaicism in individuals with Cornelia de Lange syndrome.
18. Faculty Opinions recommendation of De novo mutations in histone-modifying genes in congenital heart disease.
19. Faculty Opinions recommendation of Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
20. Faculty Opinions recommendation of Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
21. Faculty Opinions recommendation of The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
22. Faculty Opinions recommendation of Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.
23. Faculty Opinions recommendation of On the immortality of television sets: "function" in the human genome according to the evolution-free gospel of ENCODE.
24. Faculty Opinions recommendation of Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality?
25. Faculty Opinions recommendation of Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
26. Faculty Opinions recommendation of Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma.
27. Faculty Opinions recommendation of Towards practical, high-capacity, low-maintenance information storage in synthesized DNA.
28. Faculty Opinions recommendation of Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
29. Faculty Opinions recommendation of Landscape of transcription in human cells.
30. Faculty Opinions recommendation of Diagnostic exome sequencing in persons with severe intellectual disability.
31. Faculty Opinions recommendation of A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
32. Faculty Opinions recommendation of Detectable clonal mosaicism from birth to old age and its relationship to cancer.
33. Faculty Opinions recommendation of Clinical application of exome sequencing in undiagnosed genetic conditions.
34. Faculty Opinions recommendation of Human gut microbiome viewed across age and geography.
35. Faculty Opinions recommendation of Genetic coregulation of age of female sexual maturation and lifespan through circulating IGF1 among inbred mouse strains.
36. Faculty Opinions recommendation of Mutations in NSUN2 cause autosomal-recessive intellectual disability.
37. Faculty Opinions recommendation of Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome.
38. Faculty Opinions recommendation of Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes.
39. Faculty Opinions recommendation of A systematic survey of loss-of-function variants in human protein-coding genes.
40. Faculty Opinions recommendation of Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
41. Non-USH2A mutations in USH2 patients
42. Faculty Opinions recommendation of A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
43. Faculty Opinions recommendation of Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
44. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
45. Faculty Opinions recommendation of Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
46. Faculty Opinions recommendation of Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
47. Faculty Opinions recommendation of What can exome sequencing do for you?
48. Faculty Opinions recommendation of Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
49. Faculty Opinions recommendation of Children, biobanks and the scope of parental consent.
50. Faculty Opinions recommendation of Tumour evolution inferred by single-cell sequencing.
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