Amita Moirangthem - Dissemin

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All papers authored by Amita Moirangthem

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2021 Suzena Masih, Amita Moirangthem

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, Shubha R. Phadke

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Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B

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Amita Moirangthem

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, Shubha R. Phadke

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Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability

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2020 Deepti Saxena

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, Amita Moirangthem

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, Arya Shambhavi, Shubha R. Phadke

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Koolen‐de Vries syndrome: First report of two unrelated Indian patients

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Mayank Nilay, Amita Moirangthem

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, Deepti Saxena, Kausik Mandal, Shubha R. Phadke

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Carrier frequency of SMN1 ‐related spinal muscular atrophy in north Indian population: The need for population based screening program

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2019 Suzena Masih, Amita Moirangthem

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, Shubha R. Phadke

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Renpenning syndrome in an Indian patient

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Katta M. Girisha

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, Gandham S. Bhavani, Hitesh Shah, Amita Moirangthem

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, Ok‐Hwa Kim, Gen Nishimura, Geert R. Mortier

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Biallelic variants p.Arg1133Cys and p.Arg1379Cys inCOL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

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