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38 results on '"Lifton, Richard P."'

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

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

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

4. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

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

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

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

8. De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

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

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

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

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

13. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

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

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

16. Insights into genetics, human biology and disease gleaned from family based genomic studies

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

18. CLCN2 chloride channel mutations in familial hyperaldosteronism type II

19. Robust identification of mosaic variants in congenital heart disease

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

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

24. Genomic landscape of cutaneous T cell lymphoma

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

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

30. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

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