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Mounika Endrakanti

All India Institute of Medical Sciences

4

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14

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50 Years Ago in TheJournalofPediatrics: Syndromic Intellectual Disability: A Never-Ending Genomic Odyssey.

2021 The Journal of Pediatrics
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A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome.

2021 European Journal of Medical Genetics
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Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.

2021 Annals of Human Genetics
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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

2020 Molecular Genetics and Metabolism
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