Methylmalonic Acidemia with Novel MUT Gene Mutations by Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh

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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians by Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry

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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder by Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

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Clinical and molecular characterisation of children with monogenic obesity: a case series by Arun George, Santhosh Navi, Pamali Nanda, Roshan Daniel, Kiran Anand, Sayan Banerjee, Inusha Panigrahi, Devi Dayal

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