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6. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

12. A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

13. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

16. Leveraging cancer mutation data to predict the pathogenicity of germline missense variants

18. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

19. Unveiling the crucial neuronal role of the proteasomal ATPase subunit genePSMC5in neurodevelopmental proteasomopathies

21. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

24. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

25. Hydra at 21, key to the door for helminth researchers

26. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

30. Corrigendum: Dynamics of host immune response development during Schistosoma mansoni infection

32. A systematic assessment of the impact of rare canonical splice site variants on splicing using functional andin silicomethods

33. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

38. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

39. Trio RNA sequencing in a cohort of medically complex children

40. Pulmonary inflammation promoted by type-2 dendritic cells is a feature of human and murine schistosomiasis

42. Angiogenesis driven extracellular matrix remodeling of 3D bioprinted vascular networks

43. Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature

44. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

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