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40 results on '"Mane, Shrikant"'

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1. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

3. Advillin acts upstream of phospholipase C ε1 in steroid-resistant nephrotic syndrome

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

5. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

6. HUMAN GENETICS: De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

9. Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma

10. The contribution of de novo coding mutations to autism spectrum disorder

13. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B

14. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

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

16. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

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

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

22. Spatio-temporal transcriptome of the human brain

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

28. L-Histidine Decarboxylase and Touretteʼs Syndrome

36. Complement Factor H Polymorphism in Age-Related Macular Degeneration

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