MN
Mayank Nilay
Post Graduate Institute of Child Health, Agilus Diagnostics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Sant Parmanand Hospital
0000-0002-1589-6407
Employment
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Post Graduate Institute of Child Health Associate Professor & Head of Department2025 - Present
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Post Graduate Institute of Child Health Assistant Professor2024 - 2025
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Agilus Diagnostics Senior Consultant2023 - 2024
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Sant Parmanand Hospital Consultant (Clinical Geneticist)2023 - 2024
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Post Graduate Institute of Child Health Assistant Professor (contractual)2021 - 2023
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Sanjay Gandhi Post Graduate Institute of Medical Sciences Assistant Professor2021 - 2021
Education
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Sanjay Gandhi Post Graduate Institute of Medical Sciences DM2018 - 2021
Projects & Funding
Projects & funding information is unavailable.
Publications (24)
- Primary Coenzyme Q10 Deficiency Type 7: A Potentially Treatable Cause of Developmental Delay Save
- PhotoQuiz 72 Save
- Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features Save
- Fontaine progeroid syndrome into early adolescence: a case report Save
- Understanding and Managing Infantile PHGDH Deficiency: A Case Report Save
- Metabolic mimic of inherited bone marrow failure: LMBRD1 (cblF) deficiency in an infant Save
- Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Save
- Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts Save
- Giant Axonal Neuropathy in a Child with Stop-Gain Variant in GAN Gene Save
- Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant Save