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

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

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

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

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

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

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

7. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

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

10. Integrated mutational landscape analysis of uterine leiomyosarcomas

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

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

15. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

16. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

17. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

18. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

19. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

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

22. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

26. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitor

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

28. Mutations in PERP Cause Dominant and Recessive Keratoderma

29. Molecular and cellular reorganization of neural circuits in the human lineage

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

33. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

48. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition

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