SN
Shalini S Nayak
Kasturba Medical College, Manipal, Kasturba Medical College Manipal
0000-0001-9521-7031
Employment
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Kasturba Medical College, Manipal Dr2018 - Present
Education
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Kasturba Medical College Manipal PhD
Projects & Funding
Projects & funding information is unavailable.
Publications (36)
- Microscopic anatomy of human fetal precentral cerebral wall in the fetuses of the second trimester Save
- The transient external granular layer in human foetal cerebellum: insights into neurogenesis, genetic regulation, and developmental disorders Save
- Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7 Save
- Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence Save
- A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Save
- Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Save
- Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Save
- Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. Save
- High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. Save
- Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. Save