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175 results on '"Jackson, Adam"'

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1. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

3. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

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

9. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

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

15. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

17. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

19. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

20. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

21. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

22. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

25. Computational Prediction and Experimental Realization of Earth-Abundant Transparent Conducting Oxide Ga-Doped ZnSb2O6

26. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

30. Imbalance of flight–freeze responses and their cellular correlates in the Nlgn3−/y rat model of autism

32. Computational prediction and experimental realisation of earth abundant transparent conducting oxide Ga-doped ZnSb2O6

35. Computational prediction and experimental realisation of earth abundant transparent conducting oxide Ga-doped ZnSb2O6

38. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

39. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

40. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

41. Successful Development and Deployment of a Novel Chemical Package for Stimulation of Injection wells, Offshore UK

42. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

43. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

46. Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7

47. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

48. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

49. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

50. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

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