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77 results on '"Lifton, Richard P"'

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1. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

2. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

3. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

4. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

5. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

6. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

7. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

8. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

9. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

10. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

11. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

12. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

13. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation

14. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

16. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

17. CLCN2 chloride channel mutations in familial hyperaldosteronism type II

18. Robust identification of mosaic variants in congenital heart disease

19. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

20. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

21. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

22. Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

23. Loss of RNA expression and allele-specific expression associated with congenital heart disease

24. Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma

25. FAT1 mutations cause a glomerulotubular nephropathy

26. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

27. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

28. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

29. Genomic landscape of cutaneous T cell lymphoma

30. Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

31. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

32. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

33. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

34. Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

35. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

36. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

37. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

38. De novo mutations in histone-modifying genes in congenital heart disease

39. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

41. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

42. De novo mutations revealed by whole-exome sequencing are strongly associated with autism

43. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

45. Recessive LAMC3 mutations cause malformations of occipital cortical development

46. Genome-wide association study identifies susceptibility loci for IgA nephropathy

47. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

48. NordicDB: a Nordic pool and portal for genome-wide control data

49. Genome-wide association study of intracranial aneurysm identifies three new risk loci

50. Susceptibility loci for intracranial aneurysm in European and Japanese populations

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