42 results on '"Mane, Shrikant"'
Search Results
2. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
3. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
4. Utility of promoter hypermethylation in malignant risk stratification of intraductal papillary mucinous neoplasms
5. Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota
6. Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis
7. Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
8. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
9. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
10. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
11. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation
12. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
13. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
14. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
15. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
16. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
17. Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation
18. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
19. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas
20. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
21. The contribution of de novo coding mutations to autism spectrum disorder
22. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
23. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
24. De novo mutations in histone-modifying genes in congenital heart disease
25. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
26. Common genetic variants, acting additively, are a major source of risk for autism
27. Increased ratio of anti-apoptotic to pro-apoptotic Bcl2 gene-family members in lithium-responders one month after treatment initiation
28. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
29. De novo mutations revealed by whole-exome sequencing are strongly associated with autism
30. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
31. Early Life Stress Inhibits Expression of a Novel Innate Immune Pathway in the Developing Hippocampus
32. Spatio-temporal transcriptome of the human brain
33. Recessive LAMC3 mutations cause malformations of occipital cortical development
34. Genome-wide association study identifies susceptibility loci for IgA nephropathy
35. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
36. Genome-wide association study of intracranial aneurysm identifies three new risk loci
37. Susceptibility loci for intracranial aneurysm in European and Japanese populations
38. Gene Expression in Temporal Lobe Epilepsy is Consistent with Increased Release of Glutamate by Astrocytes
39. The Role of Genetic Markers— NAP1L1, MAGE-D2, and MTA1—in Defining Small-Intestinal Carcinoid Neoplasia
40. Aquaporin-4 is increased in the sclerotic hippocampus in human temporal lobe epilepsy
41. Microarray results: how accurate are they?
42. Defining a molecular fingerprint of STAT3-regulated genes associated with oncogenesis using microarray technology and novel statistical methods
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