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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01Get full text
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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
Published 2021-01-01Get full text
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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Published 2024-01-01Get full text
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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Published 2019-01-01Get full text
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Clinical and molecular characterisation of children with monogenic obesity: a case series
Published 2024-07-01Get full text
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Nonparametric analysis of inter‐individual relations using an attention‐based neural network
Published 2021-08-01Get full text
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